SNP Links for Protein (Select 767914152) - SNP

Links from Protein

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Select item 14897492291.

rs1489749229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:88529295 (GRCh38)
2:88828813 (GRCh37)
Canonical SPDI:: NC_000002.12:88529294:G:A,NC_000002.12:88529294:G:T
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.88529295G>A, NC_000002.12:g.88529295G>T, NC_000002.11:g.88828813G>A, NC_000002.11:g.88828813G>T, XM_005264188.4:c.364G>A, XM_005264188.4:c.364G>T, XM_005264188.3:c.364G>A, XM_005264188.3:c.364G>T, XM_005264188.2:c.517G>A, XM_005264188.2:c.517G>T, XM_005264188.1:c.364G>A, XM_005264188.1:c.364G>T, XM_011532692.3:c.364G>A, XM_011532692.3:c.364G>T, XM_011532692.2:c.364G>A, XM_011532692.2:c.364G>T, XM_011532692.1:c.364G>A, XM_011532692.1:c.364G>T, NM_152670.3:c.364G>A, NM_152670.3:c.364G>T, NM_152670.2:c.364G>A, NM_152670.2:c.364G>T, XM_011532691.2:c.364G>A, XM_011532691.2:c.364G>T, XM_011532691.1:c.364G>A, XM_011532691.1:c.364G>T, XP_005264245.3:p.Asp122Asn, XP_005264245.3:p.Asp122Tyr, XP_011530994.1:p.Asp122Asn, XP_011530994.1:p.Asp122Tyr, NP_689883.1:p.Asp122Asn, NP_689883.1:p.Asp122Tyr, XP_011530993.1:p.Asp122Asn, XP_011530993.1:p.Asp122Tyr

Select item 14876091142.

rs1487609114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:88525659 (GRCh38)
2:88825177 (GRCh37)
Canonical SPDI:: NC_000002.12:88525658:A:G
Gene:: TEX37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.88525659A>G, NC_000002.11:g.88825177A>G, XM_005264188.4:c.15A>G, XM_005264188.3:c.15A>G, XM_005264188.2:c.168A>G, XM_005264188.1:c.15A>G, XM_011532692.3:c.15A>G, XM_011532692.2:c.15A>G, XM_011532692.1:c.15A>G, NM_152670.3:c.15A>G, NM_152670.2:c.15A>G, XM_011532691.2:c.15A>G, XM_011532691.1:c.15A>G

Select item 14856638943.

rs1485663894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88529219 (GRCh38)
2:88828737 (GRCh37)
Canonical SPDI:: NC_000002.12:88529218:G:A
Gene:: TEX37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.00006/16 (TOPMED)
A=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.88529219G>A, NC_000002.11:g.88828737G>A, XM_005264188.4:c.288G>A, XM_005264188.3:c.288G>A, XM_005264188.2:c.441G>A, XM_005264188.1:c.288G>A, XM_011532692.3:c.288G>A, XM_011532692.2:c.288G>A, XM_011532692.1:c.288G>A, NM_152670.3:c.288G>A, NM_152670.2:c.288G>A, XM_011532691.2:c.288G>A, XM_011532691.1:c.288G>A

Select item 14816495674.

rs1481649567 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAGCACCTGCCATTTCACATATCCAGCTTCCCACGA>- [Show Flanks]
Chromosome:: 2:88529239 (GRCh38)
2:88828757 (GRCh37)
Canonical SPDI:: NC_000002.12:88529237:ACCAGCACCTGCCATTTCACATATCCAGCTTCCCACGA:A
Gene:: TEX37 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88529239_88529275del, NC_000002.11:g.88828757_88828793del, XM_005264188.4:c.308_344del, XM_005264188.3:c.308_344del, XM_005264188.2:c.461_497del, XM_005264188.1:c.308_344del, XM_011532692.3:c.308_344del, XM_011532692.2:c.308_344del, XM_011532692.1:c.308_344del, NM_152670.3:c.308_344del, NM_152670.2:c.308_344del, XM_011532691.2:c.308_344del, XM_011532691.1:c.308_344del, XP_005264245.3:p.Thr103fs, XP_011530994.1:p.Thr103fs, NP_689883.1:p.Thr103fs, XP_011530993.1:p.Thr103fs

Select item 14811949485.

rs1481194948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:88529351 (GRCh38)
2:88828869 (GRCh37)
Canonical SPDI:: NC_000002.12:88529350:C:G
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88529351C>G, NC_000002.11:g.88828869C>G, XM_005264188.4:c.420C>G, XM_005264188.3:c.420C>G, XM_005264188.2:c.573C>G, XM_005264188.1:c.420C>G, XM_011532692.3:c.420C>G, XM_011532692.2:c.420C>G, XM_011532692.1:c.420C>G, NM_152670.3:c.420C>G, NM_152670.2:c.420C>G, XM_011532691.2:c.420C>G, XM_011532691.1:c.420C>G, XP_005264245.3:p.His140Gln, XP_011530994.1:p.His140Gln, NP_689883.1:p.His140Gln, XP_011530993.1:p.His140Gln

Select item 14686089656.

rs1468608965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88529116 (GRCh38)
2:88828634 (GRCh37)
Canonical SPDI:: NC_000002.12:88529115:C:T
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.88529116C>T, NC_000002.11:g.88828634C>T, XM_005264188.4:c.185C>T, XM_005264188.3:c.185C>T, XM_005264188.2:c.338C>T, XM_005264188.1:c.185C>T, XM_011532692.3:c.185C>T, XM_011532692.2:c.185C>T, XM_011532692.1:c.185C>T, NM_152670.3:c.185C>T, NM_152670.2:c.185C>T, XM_011532691.2:c.185C>T, XM_011532691.1:c.185C>T, XP_005264245.3:p.Pro62Leu, XP_011530994.1:p.Pro62Leu, NP_689883.1:p.Pro62Leu, XP_011530993.1:p.Pro62Leu

Select item 14632770277.

rs1463277027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:88526471 (GRCh38)
2:88825989 (GRCh37)
Canonical SPDI:: NC_000002.12:88526470:A:G
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.88526471A>G, NC_000002.11:g.88825989A>G, XM_005264188.4:c.94A>G, XM_005264188.3:c.94A>G, XM_005264188.2:c.247A>G, XM_005264188.1:c.94A>G, XM_011532692.3:c.94A>G, XM_011532692.2:c.94A>G, XM_011532692.1:c.94A>G, NM_152670.3:c.94A>G, NM_152670.2:c.94A>G, XM_011532691.2:c.94A>G, XM_011532691.1:c.94A>G, XP_005264245.3:p.Lys32Glu, XP_011530994.1:p.Lys32Glu, NP_689883.1:p.Lys32Glu, XP_011530993.1:p.Lys32Glu

Select item 14619457218.

rs1461945721 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:88529149 (GRCh38)
2:88828668 (GRCh37)
Canonical SPDI:: NC_000002.12:88529149:A:AA
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88529150dup, NC_000002.11:g.88828668dup, XM_005264188.4:c.219dup, XM_005264188.3:c.219dup, XM_005264188.2:c.372dup, XM_005264188.1:c.219dup, XM_011532692.3:c.219dup, XM_011532692.2:c.219dup, XM_011532692.1:c.219dup, NM_152670.3:c.219dup, NM_152670.2:c.219dup, XM_011532691.2:c.219dup, XM_011532691.1:c.219dup, XP_005264245.3:p.Pro74fs, XP_011530994.1:p.Pro74fs, NP_689883.1:p.Pro74fs, XP_011530993.1:p.Pro74fs

Select item 14521133729.

rs1452113372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88529395 (GRCh38)
2:88828913 (GRCh37)
Canonical SPDI:: NC_000002.12:88529394:G:A
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88529395G>A, NC_000002.11:g.88828913G>A, XM_005264188.4:c.464G>A, XM_005264188.3:c.464G>A, XM_005264188.2:c.617G>A, XM_005264188.1:c.464G>A, XM_011532692.3:c.464G>A, XM_011532692.2:c.464G>A, XM_011532692.1:c.464G>A, NM_152670.3:c.464G>A, NM_152670.2:c.464G>A, XM_011532691.2:c.464G>A, XM_011532691.1:c.464G>A, XP_005264245.3:p.Gly155Glu, XP_011530994.1:p.Gly155Glu, NP_689883.1:p.Gly155Glu, XP_011530993.1:p.Gly155Glu

Select item 145032233310.

rs1450322333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:88529327 (GRCh38)
2:88828845 (GRCh37)
Canonical SPDI:: NC_000002.12:88529326:T:C,NC_000002.12:88529326:T:G
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.88529327T>C, NC_000002.12:g.88529327T>G, NC_000002.11:g.88828845T>C, NC_000002.11:g.88828845T>G, XM_005264188.4:c.396T>C, XM_005264188.4:c.396T>G, XM_005264188.3:c.396T>C, XM_005264188.3:c.396T>G, XM_005264188.2:c.549T>C, XM_005264188.2:c.549T>G, XM_005264188.1:c.396T>C, XM_005264188.1:c.396T>G, XM_011532692.3:c.396T>C, XM_011532692.3:c.396T>G, XM_011532692.2:c.396T>C, XM_011532692.2:c.396T>G, XM_011532692.1:c.396T>C, XM_011532692.1:c.396T>G, NM_152670.3:c.396T>C, NM_152670.3:c.396T>G, NM_152670.2:c.396T>C, NM_152670.2:c.396T>G, XM_011532691.2:c.396T>C, XM_011532691.2:c.396T>G, XM_011532691.1:c.396T>C, XM_011532691.1:c.396T>G, XP_005264245.3:p.Phe132Leu, XP_011530994.1:p.Phe132Leu, NP_689883.1:p.Phe132Leu, XP_011530993.1:p.Phe132Leu

Select item 144732747411.

rs1447327474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88529414 (GRCh38)
2:88828932 (GRCh37)
Canonical SPDI:: NC_000002.12:88529413:C:T
Gene:: TEX37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.88529414C>T, NC_000002.11:g.88828932C>T, XM_005264188.4:c.483C>T, XM_005264188.3:c.483C>T, XM_005264188.2:c.636C>T, XM_005264188.1:c.483C>T, XM_011532692.3:c.483C>T, XM_011532692.2:c.483C>T, XM_011532692.1:c.483C>T, NM_152670.3:c.483C>T, NM_152670.2:c.483C>T, XM_011532691.2:c.483C>T, XM_011532691.1:c.483C>T

Select item 144545555212.

rs1445455552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:88529104 (GRCh38)
2:88828622 (GRCh37)
Canonical SPDI:: NC_000002.12:88529103:C:G
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.88529104C>G, NC_000002.11:g.88828622C>G, XM_005264188.4:c.173C>G, XM_005264188.3:c.173C>G, XM_005264188.2:c.326C>G, XM_005264188.1:c.173C>G, XM_011532692.3:c.173C>G, XM_011532692.2:c.173C>G, XM_011532692.1:c.173C>G, NM_152670.3:c.173C>G, NM_152670.2:c.173C>G, XM_011532691.2:c.173C>G, XM_011532691.1:c.173C>G, XP_005264245.3:p.Pro58Arg, XP_011530994.1:p.Pro58Arg, NP_689883.1:p.Pro58Arg, XP_011530993.1:p.Pro58Arg

Select item 144432604513.

rs1444326045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:88529457 (GRCh38)
2:88828975 (GRCh37)
Canonical SPDI:: NC_000002.12:88529456:A:T
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.88529457A>T, NC_000002.11:g.88828975A>T, XM_005264188.4:c.526A>T, XM_005264188.3:c.526A>T, XM_005264188.2:c.679A>T, XM_005264188.1:c.526A>T, XM_011532692.3:c.526A>T, XM_011532692.2:c.526A>T, XM_011532692.1:c.526A>T, NM_152670.3:c.526A>T, NM_152670.2:c.526A>T, XM_011532691.2:c.526A>T, XM_011532691.1:c.526A>T, XP_005264245.3:p.Met176Leu, XP_011530994.1:p.Met176Leu, NP_689883.1:p.Met176Leu, XP_011530993.1:p.Met176Leu

Select item 144353591514.

rs1443535915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:88529463 (GRCh38)
2:88828981 (GRCh37)
Canonical SPDI:: NC_000002.12:88529462:T:C
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.88529463T>C, NC_000002.11:g.88828981T>C, XM_005264188.4:c.532T>C, XM_005264188.3:c.532T>C, XM_005264188.2:c.685T>C, XM_005264188.1:c.532T>C, XM_011532692.3:c.532T>C, XM_011532692.2:c.532T>C, XM_011532692.1:c.532T>C, NM_152670.3:c.532T>C, NM_152670.2:c.532T>C, XM_011532691.2:c.532T>C, XM_011532691.1:c.532T>C, XP_005264245.3:p.Phe178Leu, XP_011530994.1:p.Phe178Leu, NP_689883.1:p.Phe178Leu, XP_011530993.1:p.Phe178Leu

Select item 143986168315.

rs1439861683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88529307 (GRCh38)
2:88828825 (GRCh37)
Canonical SPDI:: NC_000002.12:88529306:G:A
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.88529307G>A, NC_000002.11:g.88828825G>A, XM_005264188.4:c.376G>A, XM_005264188.3:c.376G>A, XM_005264188.2:c.529G>A, XM_005264188.1:c.376G>A, XM_011532692.3:c.376G>A, XM_011532692.2:c.376G>A, XM_011532692.1:c.376G>A, NM_152670.3:c.376G>A, NM_152670.2:c.376G>A, XM_011532691.2:c.376G>A, XM_011532691.1:c.376G>A, XP_005264245.3:p.Val126Ile, XP_011530994.1:p.Val126Ile, NP_689883.1:p.Val126Ile, XP_011530993.1:p.Val126Ile

Select item 142859913016.

rs1428599130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88526479 (GRCh38)
2:88825997 (GRCh37)
Canonical SPDI:: NC_000002.12:88526478:C:T
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88526479C>T, NC_000002.11:g.88825997C>T, XM_005264188.4:c.102C>T, XM_005264188.3:c.102C>T, XM_005264188.2:c.255C>T, XM_005264188.1:c.102C>T, XM_011532692.3:c.102C>T, XM_011532692.2:c.102C>T, XM_011532692.1:c.102C>T, NM_152670.3:c.102C>T, NM_152670.2:c.102C>T, XM_011532691.2:c.102C>T, XM_011532691.1:c.102C>T

Select item 142858276317.

rs1428582763 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:88529325 (GRCh38)
2:88828843 (GRCh37)
Canonical SPDI:: NC_000002.12:88529324:TTT:TT
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.88529327del, NC_000002.11:g.88828845del, XM_005264188.4:c.396del, XM_005264188.3:c.396del, XM_005264188.2:c.549del, XM_005264188.1:c.396del, XM_011532692.3:c.396del, XM_011532692.2:c.396del, XM_011532692.1:c.396del, NM_152670.3:c.396del, NM_152670.2:c.396del, XM_011532691.2:c.396del, XM_011532691.1:c.396del, XP_005264245.3:p.Pro133fs, XP_011530994.1:p.Pro133fs, NP_689883.1:p.Pro133fs, XP_011530993.1:p.Pro133fs

Select item 142783201418.

rs1427832014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88529163 (GRCh38)
2:88828681 (GRCh37)
Canonical SPDI:: NC_000002.12:88529162:G:A
Gene:: TEX37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.88529163G>A, NC_000002.11:g.88828681G>A, XM_005264188.4:c.232G>A, XM_005264188.3:c.232G>A, XM_005264188.2:c.385G>A, XM_005264188.1:c.232G>A, XM_011532692.3:c.232G>A, XM_011532692.2:c.232G>A, XM_011532692.1:c.232G>A, NM_152670.3:c.232G>A, NM_152670.2:c.232G>A, XM_011532691.2:c.232G>A, XM_011532691.1:c.232G>A, XP_005264245.3:p.Ala78Thr, XP_011530994.1:p.Ala78Thr, NP_689883.1:p.Ala78Thr, XP_011530993.1:p.Ala78Thr

Select item 141953052319.

rs1419530523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88526440 (GRCh38)
2:88825958 (GRCh37)
Canonical SPDI:: NC_000002.12:88526439:C:T
Gene:: TEX37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88526440C>T, NC_000002.11:g.88825958C>T, XM_005264188.4:c.63C>T, XM_005264188.3:c.63C>T, XM_005264188.2:c.216C>T, XM_005264188.1:c.63C>T, XM_011532692.3:c.63C>T, XM_011532692.2:c.63C>T, XM_011532692.1:c.63C>T, NM_152670.3:c.63C>T, NM_152670.2:c.63C>T, XM_011532691.2:c.63C>T, XM_011532691.1:c.63C>T

Select item 140816743520.

rs1408167435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:88529371 (GRCh38)
2:88828889 (GRCh37)
Canonical SPDI:: NC_000002.12:88529370:C:A
Gene:: TEX37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.88529371C>A, NC_000002.11:g.88828889C>A, XM_005264188.4:c.440C>A, XM_005264188.3:c.440C>A, XM_005264188.2:c.593C>A, XM_005264188.1:c.440C>A, XM_011532692.3:c.440C>A, XM_011532692.2:c.440C>A, XM_011532692.1:c.440C>A, NM_152670.3:c.440C>A, NM_152670.2:c.440C>A, XM_011532691.2:c.440C>A, XM_011532691.1:c.440C>A, XP_005264245.3:p.Ala147Asp, XP_011530994.1:p.Ala147Asp, NP_689883.1:p.Ala147Asp, XP_011530993.1:p.Ala147Asp

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