SNP Links for Protein (Select 59850762) - SNP

Links from Protein

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Select item 14889930661.

rs1488993066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:70699573 (GRCh38)
15:70991912 (GRCh37)
Canonical SPDI:: NC_000015.10:70699572:T:C
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70699573T>C, NC_000015.9:g.70991912T>C, NG_054898.1:g.84251A>G, NM_018003.4:c.166A>G, NM_018003.3:c.166A>G, NM_018003.2:c.166A>G, NM_001008224.3:c.127A>G, NM_001008224.2:c.127A>G, NM_001008224.1:c.127A>G, XM_005254529.5:c.127A>G, XM_005254529.4:c.127A>G, XM_005254529.3:c.127A>G, XM_005254529.2:c.127A>G, XM_005254529.1:c.127A>G, XM_011521752.4:c.226A>G, XM_011521752.3:c.226A>G, XM_011521752.2:c.226A>G, XM_011521752.1:c.145A>G, XM_011521753.3:c.226A>G, XM_011521753.2:c.226A>G, XM_011521753.1:c.145A>G, XM_017022394.3:c.166A>G, XM_017022394.2:c.166A>G, XM_017022394.1:c.166A>G, XM_017022395.2:c.115A>G, XM_017022395.1:c.115A>G, NP_060473.2:p.Lys56Glu, NP_001008225.1:p.Lys43Glu, XP_005254586.1:p.Lys43Glu, XP_011520054.2:p.Lys76Glu, XP_011520055.2:p.Lys76Glu, XP_016877883.1:p.Lys56Glu, XP_016877884.1:p.Lys39Glu

Select item 14887971172.

rs1488797117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:70668624 (GRCh38)
15:70960963 (GRCh37)
Canonical SPDI:: NC_000015.10:70668623:T:A,NC_000015.10:70668623:T:C
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.00092/15 (TOMMO)
HGVS:: NC_000015.10:g.70668624T>A, NC_000015.10:g.70668624T>C, NC_000015.9:g.70960963T>A, NC_000015.9:g.70960963T>C, NG_054898.1:g.115200A>T, NG_054898.1:g.115200A>G, NM_018003.4:c.2060A>T, NM_018003.4:c.2060A>G, NM_018003.3:c.2060A>T, NM_018003.3:c.2060A>G, NM_018003.2:c.2060A>T, NM_018003.2:c.2060A>G, NM_001008224.3:c.2021A>T, NM_001008224.3:c.2021A>G, NM_001008224.2:c.2021A>T, NM_001008224.2:c.2021A>G, NM_001008224.1:c.2021A>T, NM_001008224.1:c.2021A>G, XM_005254529.5:c.1988A>T, XM_005254529.5:c.1988A>G, XM_005254529.4:c.1988A>T, XM_005254529.4:c.1988A>G, XM_005254529.3:c.1988A>T, XM_005254529.3:c.1988A>G, XM_005254529.2:c.1988A>T, XM_005254529.2:c.1988A>G, XM_005254529.1:c.1988A>T, XM_005254529.1:c.1988A>G, XM_011521752.4:c.2120A>T, XM_011521752.4:c.2120A>G, XM_011521752.3:c.2120A>T, XM_011521752.3:c.2120A>G, XM_011521752.2:c.2120A>T, XM_011521752.2:c.2120A>G, XM_011521752.1:c.2039A>T, XM_011521752.1:c.2039A>G, XM_011521753.3:c.2087A>T, XM_011521753.3:c.2087A>G, XM_011521753.2:c.2087A>T, XM_011521753.2:c.2087A>G, XM_011521753.1:c.2006A>T, XM_011521753.1:c.2006A>G, XM_017022394.3:c.2027A>T, XM_017022394.3:c.2027A>G, XM_017022394.2:c.2027A>T, XM_017022394.2:c.2027A>G, XM_017022394.1:c.2027A>T, XM_017022394.1:c.2027A>G, XM_017022395.2:c.2009A>T, XM_017022395.2:c.2009A>G, XM_017022395.1:c.2009A>T, XM_017022395.1:c.2009A>G, XM_047432783.1:c.1304A>T, XM_047432783.1:c.1304A>G, NP_060473.2:p.His687Leu, NP_060473.2:p.His687Arg, NP_001008225.1:p.His674Leu, NP_001008225.1:p.His674Arg, XP_005254586.1:p.His663Leu, XP_005254586.1:p.His663Arg, XP_011520054.2:p.His707Leu, XP_011520054.2:p.His707Arg, XP_011520055.2:p.His696Leu, XP_011520055.2:p.His696Arg, XP_016877883.1:p.His676Leu, XP_016877883.1:p.His676Arg, XP_016877884.1:p.His670Leu, XP_016877884.1:p.His670Arg, XP_047288739.1:p.His435Leu, XP_047288739.1:p.His435Arg

Select item 14878493763.

rs1487849376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:70668703 (GRCh38)
15:70961042 (GRCh37)
Canonical SPDI:: NC_000015.10:70668702:G:C
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70668703G>C, NC_000015.9:g.70961042G>C, NG_054898.1:g.115121C>G, NM_018003.4:c.1981C>G, NM_018003.3:c.1981C>G, NM_018003.2:c.1981C>G, NM_001008224.3:c.1942C>G, NM_001008224.2:c.1942C>G, NM_001008224.1:c.1942C>G, XM_005254529.5:c.1909C>G, XM_005254529.4:c.1909C>G, XM_005254529.3:c.1909C>G, XM_005254529.2:c.1909C>G, XM_005254529.1:c.1909C>G, XM_011521752.4:c.2041C>G, XM_011521752.3:c.2041C>G, XM_011521752.2:c.2041C>G, XM_011521752.1:c.1960C>G, XM_011521753.3:c.2008C>G, XM_011521753.2:c.2008C>G, XM_011521753.1:c.1927C>G, XM_017022394.3:c.1948C>G, XM_017022394.2:c.1948C>G, XM_017022394.1:c.1948C>G, XM_017022395.2:c.1930C>G, XM_017022395.1:c.1930C>G, XM_047432783.1:c.1225C>G, NP_060473.2:p.Leu661Val, NP_001008225.1:p.Leu648Val, XP_005254586.1:p.Leu637Val, XP_011520054.2:p.Leu681Val, XP_011520055.2:p.Leu670Val, XP_016877883.1:p.Leu650Val, XP_016877884.1:p.Leu644Val, XP_047288739.1:p.Leu409Val

Select item 14876127494.

rs1487612749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:70660162 (GRCh38)
15:70952501 (GRCh37)
Canonical SPDI:: NC_000015.10:70660161:T:C,NC_000015.10:70660161:T:G
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.70660162T>C, NC_000015.10:g.70660162T>G, NC_000015.9:g.70952501T>C, NC_000015.9:g.70952501T>G, NG_054898.1:g.123662A>G, NG_054898.1:g.123662A>C, NM_018003.4:c.4168A>G, NM_018003.4:c.4168A>C, NM_018003.3:c.4168A>G, NM_018003.3:c.4168A>C, NM_018003.2:c.4168A>G, NM_018003.2:c.4168A>C, NM_001008224.3:c.4129A>G, NM_001008224.3:c.4129A>C, NM_001008224.2:c.4129A>G, NM_001008224.2:c.4129A>C, NM_001008224.1:c.4129A>G, NM_001008224.1:c.4129A>C, XM_005254529.5:c.4096A>G, XM_005254529.5:c.4096A>C, XM_005254529.4:c.4096A>G, XM_005254529.4:c.4096A>C, XM_005254529.3:c.4096A>G, XM_005254529.3:c.4096A>C, XM_005254529.2:c.4096A>G, XM_005254529.2:c.4096A>C, XM_005254529.1:c.4096A>G, XM_005254529.1:c.4096A>C, XM_011521752.4:c.4228A>G, XM_011521752.4:c.4228A>C, XM_011521752.3:c.4228A>G, XM_011521752.3:c.4228A>C, XM_011521752.2:c.4228A>G, XM_011521752.2:c.4228A>C, XM_011521752.1:c.4147A>G, XM_011521752.1:c.4147A>C, XM_011521753.3:c.4195A>G, XM_011521753.3:c.4195A>C, XM_011521753.2:c.4195A>G, XM_011521753.2:c.4195A>C, XM_011521753.1:c.4114A>G, XM_011521753.1:c.4114A>C, XM_017022394.3:c.4135A>G, XM_017022394.3:c.4135A>C, XM_017022394.2:c.4135A>G, XM_017022394.2:c.4135A>C, XM_017022394.1:c.4135A>G, XM_017022394.1:c.4135A>C, XM_017022395.2:c.4117A>G, XM_017022395.2:c.4117A>C, XM_017022395.1:c.4117A>G, XM_017022395.1:c.4117A>C, XM_047432783.1:c.3412A>G, XM_047432783.1:c.3412A>C, NP_060473.2:p.Ser1390Gly, NP_060473.2:p.Ser1390Arg, NP_001008225.1:p.Ser1377Gly, NP_001008225.1:p.Ser1377Arg, XP_005254586.1:p.Ser1366Gly, XP_005254586.1:p.Ser1366Arg, XP_011520054.2:p.Ser1410Gly, XP_011520054.2:p.Ser1410Arg, XP_011520055.2:p.Ser1399Gly, XP_011520055.2:p.Ser1399Arg, XP_016877883.1:p.Ser1379Gly, XP_016877883.1:p.Ser1379Arg, XP_016877884.1:p.Ser1373Gly, XP_016877884.1:p.Ser1373Arg, XP_047288739.1:p.Ser1138Gly, XP_047288739.1:p.Ser1138Arg

Select item 14870921855.

rs1487092185 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCGCC [Show Flanks]
Chromosome:: 15:70763343 (GRCh38)
15:71055683 (GRCh37)
Canonical SPDI:: NC_000015.10:70763343:CGGCGCC:CGGCGCCGGCGCC
Gene:: UACA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: CGGCGCCGGCGCC=0.000071/1 (ALFA)
CGGCGC=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.70763345_70763350dup, NC_000015.9:g.71055684_71055689dup, NG_054898.1:g.20475_20480dup, NM_018003.4:c.59_64dup, NM_018003.3:c.59_64dup, NM_018003.2:c.59_64dup, XM_017022394.3:c.59_64dup, XM_017022394.2:c.59_64dup, XM_017022394.1:c.59_64dup, NP_060473.2:p.Gly20_Ala21dup, XP_016877883.1:p.Gly20_Ala21dup

Select item 14863380706.

rs1486338070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:70667336 (GRCh38)
15:70959675 (GRCh37)
Canonical SPDI:: NC_000015.10:70667335:C:T
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70667336C>T, NC_000015.9:g.70959675C>T, NG_054898.1:g.116488G>A, NM_018003.4:c.3348G>A, NM_018003.3:c.3348G>A, NM_018003.2:c.3348G>A, NM_001008224.3:c.3309G>A, NM_001008224.2:c.3309G>A, NM_001008224.1:c.3309G>A, XM_005254529.5:c.3276G>A, XM_005254529.4:c.3276G>A, XM_005254529.3:c.3276G>A, XM_005254529.2:c.3276G>A, XM_005254529.1:c.3276G>A, XM_011521752.4:c.3408G>A, XM_011521752.3:c.3408G>A, XM_011521752.2:c.3408G>A, XM_011521752.1:c.3327G>A, XM_011521753.3:c.3375G>A, XM_011521753.2:c.3375G>A, XM_011521753.1:c.3294G>A, XM_017022394.3:c.3315G>A, XM_017022394.2:c.3315G>A, XM_017022394.1:c.3315G>A, XM_017022395.2:c.3297G>A, XM_017022395.1:c.3297G>A, XM_047432783.1:c.2592G>A

Select item 14860423317.

rs1486042331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:70668430 (GRCh38)
15:70960769 (GRCh37)
Canonical SPDI:: NC_000015.10:70668429:C:G
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70668430C>G, NC_000015.9:g.70960769C>G, NG_054898.1:g.115394G>C, NM_018003.4:c.2254G>C, NM_018003.3:c.2254G>C, NM_018003.2:c.2254G>C, NM_001008224.3:c.2215G>C, NM_001008224.2:c.2215G>C, NM_001008224.1:c.2215G>C, XM_005254529.5:c.2182G>C, XM_005254529.4:c.2182G>C, XM_005254529.3:c.2182G>C, XM_005254529.2:c.2182G>C, XM_005254529.1:c.2182G>C, XM_011521752.4:c.2314G>C, XM_011521752.3:c.2314G>C, XM_011521752.2:c.2314G>C, XM_011521752.1:c.2233G>C, XM_011521753.3:c.2281G>C, XM_011521753.2:c.2281G>C, XM_011521753.1:c.2200G>C, XM_017022394.3:c.2221G>C, XM_017022394.2:c.2221G>C, XM_017022394.1:c.2221G>C, XM_017022395.2:c.2203G>C, XM_017022395.1:c.2203G>C, XM_047432783.1:c.1498G>C, NP_060473.2:p.Asp752His, NP_001008225.1:p.Asp739His, XP_005254586.1:p.Asp728His, XP_011520054.2:p.Asp772His, XP_011520055.2:p.Asp761His, XP_016877883.1:p.Asp741His, XP_016877884.1:p.Asp735His, XP_047288739.1:p.Asp500His

Select item 14859028188.

rs1485902818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:70667568 (GRCh38)
15:70959907 (GRCh37)
Canonical SPDI:: NC_000015.10:70667567:G:A
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70667568G>A, NC_000015.9:g.70959907G>A, NG_054898.1:g.116256C>T, NM_018003.4:c.3116C>T, NM_018003.3:c.3116C>T, NM_018003.2:c.3116C>T, NM_001008224.3:c.3077C>T, NM_001008224.2:c.3077C>T, NM_001008224.1:c.3077C>T, XM_005254529.5:c.3044C>T, XM_005254529.4:c.3044C>T, XM_005254529.3:c.3044C>T, XM_005254529.2:c.3044C>T, XM_005254529.1:c.3044C>T, XM_011521752.4:c.3176C>T, XM_011521752.3:c.3176C>T, XM_011521752.2:c.3176C>T, XM_011521752.1:c.3095C>T, XM_011521753.3:c.3143C>T, XM_011521753.2:c.3143C>T, XM_011521753.1:c.3062C>T, XM_017022394.3:c.3083C>T, XM_017022394.2:c.3083C>T, XM_017022394.1:c.3083C>T, XM_017022395.2:c.3065C>T, XM_017022395.1:c.3065C>T, XM_047432783.1:c.2360C>T, NP_060473.2:p.Thr1039Ile, NP_001008225.1:p.Thr1026Ile, XP_005254586.1:p.Thr1015Ile, XP_011520054.2:p.Thr1059Ile, XP_011520055.2:p.Thr1048Ile, XP_016877883.1:p.Thr1028Ile, XP_016877884.1:p.Thr1022Ile, XP_047288739.1:p.Thr787Ile

Select item 14853541779.

rs1485354177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:70666987 (GRCh38)
15:70959326 (GRCh37)
Canonical SPDI:: NC_000015.10:70666986:T:C
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70666987T>C, NC_000015.9:g.70959326T>C, NG_054898.1:g.116837A>G, NM_018003.4:c.3697A>G, NM_018003.3:c.3697A>G, NM_018003.2:c.3697A>G, NM_001008224.3:c.3658A>G, NM_001008224.2:c.3658A>G, NM_001008224.1:c.3658A>G, XM_005254529.5:c.3625A>G, XM_005254529.4:c.3625A>G, XM_005254529.3:c.3625A>G, XM_005254529.2:c.3625A>G, XM_005254529.1:c.3625A>G, XM_011521752.4:c.3757A>G, XM_011521752.3:c.3757A>G, XM_011521752.2:c.3757A>G, XM_011521752.1:c.3676A>G, XM_011521753.3:c.3724A>G, XM_011521753.2:c.3724A>G, XM_011521753.1:c.3643A>G, XM_017022394.3:c.3664A>G, XM_017022394.2:c.3664A>G, XM_017022394.1:c.3664A>G, XM_017022395.2:c.3646A>G, XM_017022395.1:c.3646A>G, XM_047432783.1:c.2941A>G, NP_060473.2:p.Lys1233Glu, NP_001008225.1:p.Lys1220Glu, XP_005254586.1:p.Lys1209Glu, XP_011520054.2:p.Lys1253Glu, XP_011520055.2:p.Lys1242Glu, XP_016877883.1:p.Lys1222Glu, XP_016877884.1:p.Lys1216Glu, XP_047288739.1:p.Lys981Glu

Select item 148529950610.

rs1485299506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:70660194 (GRCh38)
15:70952533 (GRCh37)
Canonical SPDI:: NC_000015.10:70660193:T:A
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.70660194T>A, NC_000015.9:g.70952533T>A, NG_054898.1:g.123630A>T, NM_018003.4:c.4136A>T, NM_018003.3:c.4136A>T, NM_018003.2:c.4136A>T, NM_001008224.3:c.4097A>T, NM_001008224.2:c.4097A>T, NM_001008224.1:c.4097A>T, XM_005254529.5:c.4064A>T, XM_005254529.4:c.4064A>T, XM_005254529.3:c.4064A>T, XM_005254529.2:c.4064A>T, XM_005254529.1:c.4064A>T, XM_011521752.4:c.4196A>T, XM_011521752.3:c.4196A>T, XM_011521752.2:c.4196A>T, XM_011521752.1:c.4115A>T, XM_011521753.3:c.4163A>T, XM_011521753.2:c.4163A>T, XM_011521753.1:c.4082A>T, XM_017022394.3:c.4103A>T, XM_017022394.2:c.4103A>T, XM_017022394.1:c.4103A>T, XM_017022395.2:c.4085A>T, XM_017022395.1:c.4085A>T, XM_047432783.1:c.3380A>T, NP_060473.2:p.Glu1379Val, NP_001008225.1:p.Glu1366Val, XP_005254586.1:p.Glu1355Val, XP_011520054.2:p.Glu1399Val, XP_011520055.2:p.Glu1388Val, XP_016877883.1:p.Glu1368Val, XP_016877884.1:p.Glu1362Val, XP_047288739.1:p.Glu1127Val

Select item 148374731611.

rs1483747316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:70657068 (GRCh38)
15:70949407 (GRCh37)
Canonical SPDI:: NC_000015.10:70657067:C:T
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70657068C>T, NC_000015.9:g.70949407C>T, NG_054898.1:g.126756G>A, NM_018003.4:c.4239G>A, NM_018003.3:c.4239G>A, NM_018003.2:c.4239G>A, NM_001008224.3:c.4200G>A, NM_001008224.2:c.4200G>A, NM_001008224.1:c.4200G>A, XM_005254529.5:c.4167G>A, XM_005254529.4:c.4167G>A, XM_005254529.3:c.4167G>A, XM_005254529.2:c.4167G>A, XM_005254529.1:c.4167G>A, XM_011521752.4:c.4299G>A, XM_011521752.3:c.4299G>A, XM_011521752.2:c.4299G>A, XM_011521752.1:c.4218G>A, XM_011521753.3:c.4266G>A, XM_011521753.2:c.4266G>A, XM_011521753.1:c.4185G>A, XM_017022394.3:c.4206G>A, XM_017022394.2:c.4206G>A, XM_017022394.1:c.4206G>A, XM_017022395.2:c.4188G>A, XM_017022395.1:c.4188G>A, XM_047432783.1:c.3483G>A

Select item 148373361712.

rs1483733617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:70669346 (GRCh38)
15:70961685 (GRCh37)
Canonical SPDI:: NC_000015.10:70669345:T:C
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.70669346T>C, NC_000015.9:g.70961685T>C, NG_054898.1:g.114478A>G, NM_018003.4:c.1338A>G, NM_018003.3:c.1338A>G, NM_018003.2:c.1338A>G, NM_001008224.3:c.1299A>G, NM_001008224.2:c.1299A>G, NM_001008224.1:c.1299A>G, XM_005254529.5:c.1266A>G, XM_005254529.4:c.1266A>G, XM_005254529.3:c.1266A>G, XM_005254529.2:c.1266A>G, XM_005254529.1:c.1266A>G, XM_011521752.4:c.1398A>G, XM_011521752.3:c.1398A>G, XM_011521752.2:c.1398A>G, XM_011521752.1:c.1317A>G, XM_011521753.3:c.1365A>G, XM_011521753.2:c.1365A>G, XM_011521753.1:c.1284A>G, XM_017022394.3:c.1305A>G, XM_017022394.2:c.1305A>G, XM_017022394.1:c.1305A>G, XM_017022395.2:c.1287A>G, XM_017022395.1:c.1287A>G, XM_047432783.1:c.582A>G

Select item 148341922213.

rs1483419222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:70684419 (GRCh38)
15:70976758 (GRCh37)
Canonical SPDI:: NC_000015.10:70684418:A:G
Gene:: UACA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.70684419A>G, NC_000015.9:g.70976758A>G, NG_054898.1:g.99405T>C, NM_018003.4:c.630T>C, NM_018003.3:c.630T>C, NM_018003.2:c.630T>C, NM_001008224.3:c.591T>C, NM_001008224.2:c.591T>C, NM_001008224.1:c.591T>C, XM_005254529.5:c.591T>C, XM_005254529.4:c.591T>C, XM_005254529.3:c.591T>C, XM_005254529.2:c.591T>C, XM_005254529.1:c.591T>C, XM_011521752.4:c.690T>C, XM_011521752.3:c.690T>C, XM_011521752.2:c.690T>C, XM_011521752.1:c.609T>C, XM_011521753.3:c.690T>C, XM_011521753.2:c.690T>C, XM_011521753.1:c.609T>C, XM_017022394.3:c.630T>C, XM_017022394.2:c.630T>C, XM_017022394.1:c.630T>C, XM_017022395.2:c.579T>C, XM_017022395.1:c.579T>C

Select item 148323652814.

rs1483236528 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 15:70668944 (GRCh38)
15:70961283 (GRCh37)
Canonical SPDI:: NC_000015.10:70668941:TCATC:TC
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70668944_70668946del, NC_000015.9:g.70961283_70961285del, NG_054898.1:g.114880_114882del, NM_018003.4:c.1740_1742del, NM_018003.3:c.1740_1742del, NM_018003.2:c.1740_1742del, NM_001008224.3:c.1701_1703del, NM_001008224.2:c.1701_1703del, NM_001008224.1:c.1701_1703del, XM_005254529.5:c.1668_1670del, XM_005254529.4:c.1668_1670del, XM_005254529.3:c.1668_1670del, XM_005254529.2:c.1668_1670del, XM_005254529.1:c.1668_1670del, XM_011521752.4:c.1800_1802del, XM_011521752.3:c.1800_1802del, XM_011521752.2:c.1800_1802del, XM_011521752.1:c.1719_1721del, XM_011521753.3:c.1767_1769del, XM_011521753.2:c.1767_1769del, XM_011521753.1:c.1686_1688del, XM_017022394.3:c.1707_1709del, XM_017022394.2:c.1707_1709del, XM_017022394.1:c.1707_1709del, XM_017022395.2:c.1689_1691del, XM_017022395.1:c.1689_1691del, XM_047432783.1:c.984_986del, NP_060473.2:p.Asp580del, NP_001008225.1:p.Asp567del, XP_005254586.1:p.Asp556del, XP_011520054.2:p.Asp600del, XP_011520055.2:p.Asp589del, XP_016877883.1:p.Asp569del, XP_016877884.1:p.Asp563del, XP_047288739.1:p.Asp328del

Select item 148304756115.

rs1483047561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:70667727 (GRCh38)
15:70960066 (GRCh37)
Canonical SPDI:: NC_000015.10:70667726:G:A,NC_000015.10:70667726:G:T
Gene:: UACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70667727G>A, NC_000015.10:g.70667727G>T, NC_000015.9:g.70960066G>A, NC_000015.9:g.70960066G>T, NG_054898.1:g.116097C>T, NG_054898.1:g.116097C>A, NM_018003.4:c.2957C>T, NM_018003.4:c.2957C>A, NM_018003.3:c.2957C>T, NM_018003.3:c.2957C>A, NM_018003.2:c.2957C>T, NM_018003.2:c.2957C>A, NM_001008224.3:c.2918C>T, NM_001008224.3:c.2918C>A, NM_001008224.2:c.2918C>T, NM_001008224.2:c.2918C>A, NM_001008224.1:c.2918C>T, NM_001008224.1:c.2918C>A, XM_005254529.5:c.2885C>T, XM_005254529.5:c.2885C>A, XM_005254529.4:c.2885C>T, XM_005254529.4:c.2885C>A, XM_005254529.3:c.2885C>T, XM_005254529.3:c.2885C>A, XM_005254529.2:c.2885C>T, XM_005254529.2:c.2885C>A, XM_005254529.1:c.2885C>T, XM_005254529.1:c.2885C>A, XM_011521752.4:c.3017C>T, XM_011521752.4:c.3017C>A, XM_011521752.3:c.3017C>T, XM_011521752.3:c.3017C>A, XM_011521752.2:c.3017C>T, XM_011521752.2:c.3017C>A, XM_011521752.1:c.2936C>T, XM_011521752.1:c.2936C>A, XM_011521753.3:c.2984C>T, XM_011521753.3:c.2984C>A, XM_011521753.2:c.2984C>T, XM_011521753.2:c.2984C>A, XM_011521753.1:c.2903C>T, XM_011521753.1:c.2903C>A, XM_017022394.3:c.2924C>T, XM_017022394.3:c.2924C>A, XM_017022394.2:c.2924C>T, XM_017022394.2:c.2924C>A, XM_017022394.1:c.2924C>T, XM_017022394.1:c.2924C>A, XM_017022395.2:c.2906C>T, XM_017022395.2:c.2906C>A, XM_017022395.1:c.2906C>T, XM_017022395.1:c.2906C>A, XM_047432783.1:c.2201C>T, XM_047432783.1:c.2201C>A, NP_060473.2:p.Ala986Val, NP_060473.2:p.Ala986Asp, NP_001008225.1:p.Ala973Val, NP_001008225.1:p.Ala973Asp, XP_005254586.1:p.Ala962Val, XP_005254586.1:p.Ala962Asp, XP_011520054.2:p.Ala1006Val, XP_011520054.2:p.Ala1006Asp, XP_011520055.2:p.Ala995Val, XP_011520055.2:p.Ala995Asp, XP_016877883.1:p.Ala975Val, XP_016877883.1:p.Ala975Asp, XP_016877884.1:p.Ala969Val, XP_016877884.1:p.Ala969Asp, XP_047288739.1:p.Ala734Val, XP_047288739.1:p.Ala734Asp

Select item 148275253116.

rs1482752531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:70691301 (GRCh38)
15:70983640 (GRCh37)
Canonical SPDI:: NC_000015.10:70691300:G:A
Gene:: UACA (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70691301G>A, NC_000015.9:g.70983640G>A, NG_054898.1:g.92523C>T, NM_018003.4:c.364C>T, NM_018003.3:c.364C>T, NM_018003.2:c.364C>T, NM_001008224.3:c.325C>T, NM_001008224.2:c.325C>T, NM_001008224.1:c.325C>T, XM_005254529.5:c.325C>T, XM_005254529.4:c.325C>T, XM_005254529.3:c.325C>T, XM_005254529.2:c.325C>T, XM_005254529.1:c.325C>T, XM_011521752.4:c.424C>T, XM_011521752.3:c.424C>T, XM_011521752.2:c.424C>T, XM_011521752.1:c.343C>T, XM_011521753.3:c.424C>T, XM_011521753.2:c.424C>T, XM_011521753.1:c.343C>T, XM_017022394.3:c.364C>T, XM_017022394.2:c.364C>T, XM_017022394.1:c.364C>T, XM_017022395.2:c.313C>T, XM_017022395.1:c.313C>T, NP_060473.2:p.Gln122Ter, NP_001008225.1:p.Gln109Ter, XP_005254586.1:p.Gln109Ter, XP_011520054.2:p.Gln142Ter, XP_011520055.2:p.Gln142Ter, XP_016877883.1:p.Gln122Ter, XP_016877884.1:p.Gln105Ter

Select item 148126988417.

rs1481269884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:70667837 (GRCh38)
15:70960176 (GRCh37)
Canonical SPDI:: NC_000015.10:70667836:G:T
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70667837G>T, NC_000015.9:g.70960176G>T, NG_054898.1:g.115987C>A, NM_018003.4:c.2847C>A, NM_018003.3:c.2847C>A, NM_018003.2:c.2847C>A, NM_001008224.3:c.2808C>A, NM_001008224.2:c.2808C>A, NM_001008224.1:c.2808C>A, XM_005254529.5:c.2775C>A, XM_005254529.4:c.2775C>A, XM_005254529.3:c.2775C>A, XM_005254529.2:c.2775C>A, XM_005254529.1:c.2775C>A, XM_011521752.4:c.2907C>A, XM_011521752.3:c.2907C>A, XM_011521752.2:c.2907C>A, XM_011521752.1:c.2826C>A, XM_011521753.3:c.2874C>A, XM_011521753.2:c.2874C>A, XM_011521753.1:c.2793C>A, XM_017022394.3:c.2814C>A, XM_017022394.2:c.2814C>A, XM_017022394.1:c.2814C>A, XM_017022395.2:c.2796C>A, XM_017022395.1:c.2796C>A, XM_047432783.1:c.2091C>A

Select item 148121874918.

rs1481218749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:70669118 (GRCh38)
15:70961457 (GRCh37)
Canonical SPDI:: NC_000015.10:70669117:G:C
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.70669118G>C, NC_000015.9:g.70961457G>C, NG_054898.1:g.114706C>G, NM_018003.4:c.1566C>G, NM_018003.3:c.1566C>G, NM_018003.2:c.1566C>G, NM_001008224.3:c.1527C>G, NM_001008224.2:c.1527C>G, NM_001008224.1:c.1527C>G, XM_005254529.5:c.1494C>G, XM_005254529.4:c.1494C>G, XM_005254529.3:c.1494C>G, XM_005254529.2:c.1494C>G, XM_005254529.1:c.1494C>G, XM_011521752.4:c.1626C>G, XM_011521752.3:c.1626C>G, XM_011521752.2:c.1626C>G, XM_011521752.1:c.1545C>G, XM_011521753.3:c.1593C>G, XM_011521753.2:c.1593C>G, XM_011521753.1:c.1512C>G, XM_017022394.3:c.1533C>G, XM_017022394.2:c.1533C>G, XM_017022394.1:c.1533C>G, XM_017022395.2:c.1515C>G, XM_017022395.1:c.1515C>G, XM_047432783.1:c.810C>G

Select item 148045958319.

rs1480459583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:70664753 (GRCh38)
15:70957092 (GRCh37)
Canonical SPDI:: NC_000015.10:70664752:A:G
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000389/7 (TOMMO)
HGVS:: NC_000015.10:g.70664753A>G, NC_000015.9:g.70957092A>G, NG_054898.1:g.119071T>C, NM_018003.4:c.4022T>C, NM_018003.3:c.4022T>C, NM_018003.2:c.4022T>C, NM_001008224.3:c.3983T>C, NM_001008224.2:c.3983T>C, NM_001008224.1:c.3983T>C, XM_005254529.5:c.3950T>C, XM_005254529.4:c.3950T>C, XM_005254529.3:c.3950T>C, XM_005254529.2:c.3950T>C, XM_005254529.1:c.3950T>C, XM_011521752.4:c.4082T>C, XM_011521752.3:c.4082T>C, XM_011521752.2:c.4082T>C, XM_011521752.1:c.4001T>C, XM_011521753.3:c.4049T>C, XM_011521753.2:c.4049T>C, XM_011521753.1:c.3968T>C, XM_017022394.3:c.3989T>C, XM_017022394.2:c.3989T>C, XM_017022394.1:c.3989T>C, XM_017022395.2:c.3971T>C, XM_017022395.1:c.3971T>C, XM_047432783.1:c.3266T>C, NP_060473.2:p.Leu1341Pro, NP_001008225.1:p.Leu1328Pro, XP_005254586.1:p.Leu1317Pro, XP_011520054.2:p.Leu1361Pro, XP_011520055.2:p.Leu1350Pro, XP_016877883.1:p.Leu1330Pro, XP_016877884.1:p.Leu1324Pro, XP_047288739.1:p.Leu1089Pro

Select item 148029831020.

rs1480298310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:70679658 (GRCh38)
15:70971997 (GRCh37)
Canonical SPDI:: NC_000015.10:70679657:G:C
Gene:: UACA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70679658G>C, NC_000015.9:g.70971997G>C, NG_054898.1:g.104166C>G, NM_018003.4:c.841C>G, NM_018003.3:c.841C>G, NM_018003.2:c.841C>G, NM_001008224.3:c.802C>G, NM_001008224.2:c.802C>G, NM_001008224.1:c.802C>G, XM_005254529.5:c.802C>G, XM_005254529.4:c.802C>G, XM_005254529.3:c.802C>G, XM_005254529.2:c.802C>G, XM_005254529.1:c.802C>G, XM_011521752.4:c.901C>G, XM_011521752.3:c.901C>G, XM_011521752.2:c.901C>G, XM_011521752.1:c.820C>G, XM_011521753.3:c.901C>G, XM_011521753.2:c.901C>G, XM_011521753.1:c.820C>G, XM_017022394.3:c.841C>G, XM_017022394.2:c.841C>G, XM_017022394.1:c.841C>G, XM_017022395.2:c.790C>G, XM_017022395.1:c.790C>G, XM_047432783.1:c.85C>G, NP_060473.2:p.Gln281Glu, NP_001008225.1:p.Gln268Glu, XP_005254586.1:p.Gln268Glu, XP_011520054.2:p.Gln301Glu, XP_011520055.2:p.Gln301Glu, XP_016877883.1:p.Gln281Glu, XP_016877884.1:p.Gln264Glu, XP_047288739.1:p.Gln29Glu

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