SNP Links for Protein (Select 145611430) - SNP

Links from Protein

Items: 1 to 20 of 313

<< First< Prev

Page of 16

Next >Last >>

Select item 14731448971.

rs1473144897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1118779 (GRCh38)
20:1099422 (GRCh37)
Canonical SPDI:: NC_000020.11:1118778:G:A
Gene:: PSMF1 (Varview), LOC105372493 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1118779G>A, NC_000020.10:g.1099422G>A, NM_006814.5:c.6G>A, NM_006814.4:c.6G>A, NM_006814.3:c.6G>A, NM_178578.4:c.6G>A, NM_178578.3:c.6G>A, NM_178578.2:c.6G>A, NM_001323409.2:c.6G>A, NM_001323409.1:c.6G>A, NM_001323410.2:c.6G>A, NM_001323410.1:c.6G>A, NM_001323408.2:c.6G>A, NM_001323408.1:c.6G>A, NM_178579.1:c.6G>A

Select item 14715390952.

rs1471539095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1125649 (GRCh38)
20:1106292 (GRCh37)
Canonical SPDI:: NC_000020.11:1125648:T:C
Gene:: PSMF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1125649T>C, NC_000020.10:g.1106292T>C, NM_006814.5:c.281T>C, NM_006814.4:c.281T>C, NM_006814.3:c.281T>C, NM_178578.4:c.281T>C, NM_178578.3:c.281T>C, NM_178578.2:c.281T>C, NM_001323409.2:c.281T>C, NM_001323409.1:c.281T>C, NM_001323410.2:c.281T>C, NM_001323410.1:c.281T>C, NM_001323408.2:c.281T>C, NM_001323408.1:c.281T>C, NM_001323407.2:c.17T>C, NM_001323407.1:c.17T>C, NM_178579.1:c.281T>C, NP_006805.2:p.Leu94Pro, NP_848693.2:p.Leu94Pro, NP_001310338.1:p.Leu94Pro, NP_001310339.1:p.Leu94Pro, NP_001310337.1:p.Leu94Pro, NP_001310336.1:p.Leu6Pro

Select item 14707052843.

rs1470705284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1135193 (GRCh38)
20:1115836 (GRCh37)
Canonical SPDI:: NC_000020.11:1135192:G:A
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1135193G>A, NC_000020.10:g.1115836G>A, NM_006814.5:c.438G>A, NM_006814.4:c.438G>A, NM_006814.3:c.438G>A, NM_178578.4:c.438G>A, NM_178578.3:c.438G>A, NM_178578.2:c.438G>A, NM_001323409.2:c.438G>A, NM_001323409.1:c.438G>A, NM_001323410.2:c.438G>A, NM_001323410.1:c.438G>A, NM_001323408.2:c.438G>A, NM_001323408.1:c.438G>A, NM_001323407.2:c.174G>A, NM_001323407.1:c.174G>A, NM_178579.1:c.*55G>A, NP_006805.2:p.Trp146Ter, NP_848693.2:p.Trp146Ter, NP_001310338.1:p.Trp146Ter, NP_001310339.1:p.Trp146Ter, NP_001310337.1:p.Trp146Ter, NP_001310336.1:p.Trp58Ter

Select item 14692261844.

rs1469226184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:1127450 (GRCh38)
20:1108093 (GRCh37)
Canonical SPDI:: NC_000020.11:1127449:G:C
Gene:: PSMF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1127450G>C, NC_000020.10:g.1108093G>C, NM_006814.5:c.307G>C, NM_006814.4:c.307G>C, NM_006814.3:c.307G>C, NM_178578.4:c.307G>C, NM_178578.3:c.307G>C, NM_178578.2:c.307G>C, NM_001323409.2:c.307G>C, NM_001323409.1:c.307G>C, NM_001323410.2:c.307G>C, NM_001323410.1:c.307G>C, NM_001323408.2:c.307G>C, NM_001323408.1:c.307G>C, NM_001323407.2:c.43G>C, NM_001323407.1:c.43G>C, NP_006805.2:p.Asp103His, NP_848693.2:p.Asp103His, NP_001310338.1:p.Asp103His, NP_001310339.1:p.Asp103His, NP_001310337.1:p.Asp103His, NP_001310336.1:p.Asp15His

Select item 14634307065.

rs1463430706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:1163165 (GRCh38)
20:1143809 (GRCh37)
Canonical SPDI:: NC_000020.11:1163164:A:G
Gene:: PSMF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.1163165A>G, NC_000020.10:g.1143809A>G, NM_006814.5:c.587A>G, NM_006814.4:c.587A>G, NM_006814.3:c.587A>G, NM_178578.4:c.587A>G, NM_178578.3:c.587A>G, NM_178578.2:c.587A>G, NM_001323409.2:c.587A>G, NM_001323409.1:c.587A>G, NM_001323410.2:c.587A>G, NM_001323410.1:c.587A>G, NM_001323408.2:c.587A>G, NM_001323408.1:c.587A>G, NM_001323407.2:c.323A>G, NM_001323407.1:c.323A>G, NM_178579.1:c.*204A>G, NP_006805.2:p.Glu196Gly, NP_848693.2:p.Glu196Gly, NP_001310338.1:p.Glu196Gly, NP_001310339.1:p.Glu196Gly, NP_001310337.1:p.Glu196Gly, NP_001310336.1:p.Glu108Gly

Select item 14555554296.

rs1455555429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1164412 (GRCh38)
20:1145056 (GRCh37)
Canonical SPDI:: NC_000020.11:1164411:C:T
Gene:: PSMF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1164412C>T, NC_000020.10:g.1145056C>T, NM_006814.5:c.700C>T, NM_006814.4:c.700C>T, NM_006814.3:c.700C>T, NM_178578.4:c.700C>T, NM_178578.3:c.700C>T, NM_178578.2:c.700C>T, NM_001323409.2:c.700C>T, NM_001323409.1:c.700C>T, NM_001323410.2:c.700C>T, NM_001323410.1:c.700C>T, NM_001323408.2:c.700C>T, NM_001323408.1:c.700C>T, NM_001323407.2:c.436C>T, NM_001323407.1:c.436C>T, NM_178579.1:c.*317C>T, NP_006805.2:p.Pro234Ser, NP_848693.2:p.Pro234Ser, NP_001310338.1:p.Pro234Ser, NP_001310339.1:p.Pro234Ser, NP_001310337.1:p.Pro234Ser, NP_001310336.1:p.Pro146Ser

Select item 14429703887.

rs1442970388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1135142 (GRCh38)
20:1115785 (GRCh37)
Canonical SPDI:: NC_000020.11:1135141:G:A
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.1135142G>A, NC_000020.10:g.1115785G>A, NM_006814.5:c.387G>A, NM_006814.4:c.387G>A, NM_006814.3:c.387G>A, NM_178578.4:c.387G>A, NM_178578.3:c.387G>A, NM_178578.2:c.387G>A, NM_001323409.2:c.387G>A, NM_001323409.1:c.387G>A, NM_001323410.2:c.387G>A, NM_001323410.1:c.387G>A, NM_001323408.2:c.387G>A, NM_001323408.1:c.387G>A, NM_001323407.2:c.123G>A, NM_001323407.1:c.123G>A, NM_178579.1:c.*4G>A

Select item 14412786918.

rs1441278691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1118888 (GRCh38)
20:1099531 (GRCh37)
Canonical SPDI:: NC_000020.11:1118887:G:A
Gene:: PSMF1 (Varview), LOC105372493 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1118888G>A, NC_000020.10:g.1099531G>A, NM_006814.5:c.115G>A, NM_006814.4:c.115G>A, NM_006814.3:c.115G>A, NM_178578.4:c.115G>A, NM_178578.3:c.115G>A, NM_178578.2:c.115G>A, NM_001323409.2:c.115G>A, NM_001323409.1:c.115G>A, NM_001323410.2:c.115G>A, NM_001323410.1:c.115G>A, NM_001323408.2:c.115G>A, NM_001323408.1:c.115G>A, NM_178579.1:c.115G>A, NP_006805.2:p.Gly39Ser, NP_848693.2:p.Gly39Ser, NP_001310338.1:p.Gly39Ser, NP_001310339.1:p.Gly39Ser, NP_001310337.1:p.Gly39Ser

Select item 14399614529.

rs1439961452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1127438 (GRCh38)
20:1108081 (GRCh37)
Canonical SPDI:: NC_000020.11:1127437:C:T
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1127438C>T, NC_000020.10:g.1108081C>T, NM_006814.5:c.295C>T, NM_006814.4:c.295C>T, NM_006814.3:c.295C>T, NM_178578.4:c.295C>T, NM_178578.3:c.295C>T, NM_178578.2:c.295C>T, NM_001323409.2:c.295C>T, NM_001323409.1:c.295C>T, NM_001323410.2:c.295C>T, NM_001323410.1:c.295C>T, NM_001323408.2:c.295C>T, NM_001323408.1:c.295C>T, NM_001323407.2:c.31C>T, NM_001323407.1:c.31C>T, NP_006805.2:p.Gln99Ter, NP_848693.2:p.Gln99Ter, NP_001310338.1:p.Gln99Ter, NP_001310339.1:p.Gln99Ter, NP_001310337.1:p.Gln99Ter, NP_001310336.1:p.Gln11Ter

Select item 143800219010.

rs1438002190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1165053 (GRCh38)
20:1145697 (GRCh37)
Canonical SPDI:: NC_000020.11:1165052:G:A
Gene:: PSMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.1165053G>A, NC_000020.10:g.1145697G>A, NM_006814.5:c.789G>A, NM_006814.4:c.789G>A, NM_006814.3:c.789G>A, NM_178578.4:c.789G>A, NM_178578.3:c.789G>A, NM_178578.2:c.789G>A, NM_001323409.2:c.*19G>A, NM_001323409.1:c.*19G>A, NM_178579.1:c.*406G>A

Select item 143743437511.

rs1437434375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:1125526 (GRCh38)
20:1106169 (GRCh37)
Canonical SPDI:: NC_000020.11:1125525:T:G
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.1125526T>G, NC_000020.10:g.1106169T>G, NM_006814.5:c.158T>G, NM_006814.4:c.158T>G, NM_006814.3:c.158T>G, NM_178578.4:c.158T>G, NM_178578.3:c.158T>G, NM_178578.2:c.158T>G, NM_001323409.2:c.158T>G, NM_001323409.1:c.158T>G, NM_001323410.2:c.158T>G, NM_001323410.1:c.158T>G, NM_001323408.2:c.158T>G, NM_001323408.1:c.158T>G, NM_001323407.2:c.-107T>G, NM_001323407.1:c.-107T>G, NM_178579.1:c.158T>G, NP_006805.2:p.Leu53Arg, NP_848693.2:p.Leu53Arg, NP_001310338.1:p.Leu53Arg, NP_001310339.1:p.Leu53Arg, NP_001310337.1:p.Leu53Arg

Select item 143538894212.

rs1435388942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1135201 (GRCh38)
20:1115844 (GRCh37)
Canonical SPDI:: NC_000020.11:1135200:C:T
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1135201C>T, NC_000020.10:g.1115844C>T, NM_006814.5:c.446C>T, NM_006814.4:c.446C>T, NM_006814.3:c.446C>T, NM_178578.4:c.446C>T, NM_178578.3:c.446C>T, NM_178578.2:c.446C>T, NM_001323409.2:c.446C>T, NM_001323409.1:c.446C>T, NM_001323410.2:c.446C>T, NM_001323410.1:c.446C>T, NM_001323408.2:c.446C>T, NM_001323408.1:c.446C>T, NM_001323407.2:c.182C>T, NM_001323407.1:c.182C>T, NM_178579.1:c.*63C>T, NP_006805.2:p.Ala149Val, NP_848693.2:p.Ala149Val, NP_001310338.1:p.Ala149Val, NP_001310339.1:p.Ala149Val, NP_001310337.1:p.Ala149Val, NP_001310336.1:p.Ala61Val

Select item 143125861513.

rs1431258615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1118865 (GRCh38)
20:1099508 (GRCh37)
Canonical SPDI:: NC_000020.11:1118864:T:C
Gene:: PSMF1 (Varview), LOC105372493 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1118865T>C, NC_000020.10:g.1099508T>C, NM_006814.5:c.92T>C, NM_006814.4:c.92T>C, NM_006814.3:c.92T>C, NM_178578.4:c.92T>C, NM_178578.3:c.92T>C, NM_178578.2:c.92T>C, NM_001323409.2:c.92T>C, NM_001323409.1:c.92T>C, NM_001323410.2:c.92T>C, NM_001323410.1:c.92T>C, NM_001323408.2:c.92T>C, NM_001323408.1:c.92T>C, NM_178579.1:c.92T>C, NP_006805.2:p.Val31Ala, NP_848693.2:p.Val31Ala, NP_001310338.1:p.Val31Ala, NP_001310339.1:p.Val31Ala, NP_001310337.1:p.Val31Ala

Select item 142657194514.

rs1426571945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1135236 (GRCh38)
20:1115879 (GRCh37)
Canonical SPDI:: NC_000020.11:1135235:G:A
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1135236G>A, NC_000020.10:g.1115879G>A, NM_006814.5:c.481G>A, NM_006814.4:c.481G>A, NM_006814.3:c.481G>A, NM_178578.4:c.481G>A, NM_178578.3:c.481G>A, NM_178578.2:c.481G>A, NM_001323409.2:c.481G>A, NM_001323409.1:c.481G>A, NM_001323410.2:c.481G>A, NM_001323410.1:c.481G>A, NM_001323408.2:c.481G>A, NM_001323408.1:c.481G>A, NM_001323407.2:c.217G>A, NM_001323407.1:c.217G>A, NM_178579.1:c.*98G>A, NP_006805.2:p.Ala161Thr, NP_848693.2:p.Ala161Thr, NP_001310338.1:p.Ala161Thr, NP_001310339.1:p.Ala161Thr, NP_001310337.1:p.Ala161Thr, NP_001310336.1:p.Ala73Thr

Select item 142523348915.

rs1425233489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1118875 (GRCh38)
20:1099518 (GRCh37)
Canonical SPDI:: NC_000020.11:1118874:T:C
Gene:: PSMF1 (Varview), LOC105372493 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.1118875T>C, NC_000020.10:g.1099518T>C, NM_006814.5:c.102T>C, NM_006814.4:c.102T>C, NM_006814.3:c.102T>C, NM_178578.4:c.102T>C, NM_178578.3:c.102T>C, NM_178578.2:c.102T>C, NM_001323409.2:c.102T>C, NM_001323409.1:c.102T>C, NM_001323410.2:c.102T>C, NM_001323410.1:c.102T>C, NM_001323408.2:c.102T>C, NM_001323408.1:c.102T>C, NM_178579.1:c.102T>C

Select item 142303486316.

rs1423034863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:1135191 (GRCh38)
20:1115834 (GRCh37)
Canonical SPDI:: NC_000020.11:1135190:T:A
Gene:: PSMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.1135191T>A, NC_000020.10:g.1115834T>A, NM_006814.5:c.436T>A, NM_006814.4:c.436T>A, NM_006814.3:c.436T>A, NM_178578.4:c.436T>A, NM_178578.3:c.436T>A, NM_178578.2:c.436T>A, NM_001323409.2:c.436T>A, NM_001323409.1:c.436T>A, NM_001323410.2:c.436T>A, NM_001323410.1:c.436T>A, NM_001323408.2:c.436T>A, NM_001323408.1:c.436T>A, NM_001323407.2:c.172T>A, NM_001323407.1:c.172T>A, NM_178579.1:c.*53T>A, NP_006805.2:p.Trp146Arg, NP_848693.2:p.Trp146Arg, NP_001310338.1:p.Trp146Arg, NP_001310339.1:p.Trp146Arg, NP_001310337.1:p.Trp146Arg, NP_001310336.1:p.Trp58Arg

Select item 141158888817.

rs1411588888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1118812 (GRCh38)
20:1099455 (GRCh37)
Canonical SPDI:: NC_000020.11:1118811:G:A
Gene:: PSMF1 (Varview), LOC105372493 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.1118812G>A, NC_000020.10:g.1099455G>A, NM_006814.5:c.39G>A, NM_006814.4:c.39G>A, NM_006814.3:c.39G>A, NM_178578.4:c.39G>A, NM_178578.3:c.39G>A, NM_178578.2:c.39G>A, NM_001323409.2:c.39G>A, NM_001323409.1:c.39G>A, NM_001323410.2:c.39G>A, NM_001323410.1:c.39G>A, NM_001323408.2:c.39G>A, NM_001323408.1:c.39G>A, NM_178579.1:c.39G>A

Select item 141047702918.

rs1410477029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1118785 (GRCh38)
20:1099428 (GRCh37)
Canonical SPDI:: NC_000020.11:1118784:G:A
Gene:: PSMF1 (Varview), LOC105372493 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.1118785G>A, NC_000020.10:g.1099428G>A, NM_006814.5:c.12G>A, NM_006814.4:c.12G>A, NM_006814.3:c.12G>A, NM_178578.4:c.12G>A, NM_178578.3:c.12G>A, NM_178578.2:c.12G>A, NM_001323409.2:c.12G>A, NM_001323409.1:c.12G>A, NM_001323410.2:c.12G>A, NM_001323410.1:c.12G>A, NM_001323408.2:c.12G>A, NM_001323408.1:c.12G>A, NM_178579.1:c.12G>A

Select item 140606302719.

rs1406063027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1164417 (GRCh38)
20:1145061 (GRCh37)
Canonical SPDI:: NC_000020.11:1164416:C:T
Gene:: PSMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1164417C>T, NC_000020.10:g.1145061C>T, NM_006814.5:c.705C>T, NM_006814.4:c.705C>T, NM_006814.3:c.705C>T, NM_178578.4:c.705C>T, NM_178578.3:c.705C>T, NM_178578.2:c.705C>T, NM_001323409.2:c.705C>T, NM_001323409.1:c.705C>T, NM_001323410.2:c.705C>T, NM_001323410.1:c.705C>T, NM_001323408.2:c.705C>T, NM_001323408.1:c.705C>T, NM_001323407.2:c.441C>T, NM_001323407.1:c.441C>T, NM_178579.1:c.*322C>T

Select item 140478277620.

rs1404782776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1125617 (GRCh38)
20:1106260 (GRCh37)
Canonical SPDI:: NC_000020.11:1125616:C:T
Gene:: PSMF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1125617C>T, NC_000020.10:g.1106260C>T, NM_006814.5:c.249C>T, NM_006814.4:c.249C>T, NM_006814.3:c.249C>T, NM_178578.4:c.249C>T, NM_178578.3:c.249C>T, NM_178578.2:c.249C>T, NM_001323409.2:c.249C>T, NM_001323409.1:c.249C>T, NM_001323410.2:c.249C>T, NM_001323410.1:c.249C>T, NM_001323408.2:c.249C>T, NM_001323408.1:c.249C>T, NM_001323407.2:c.-16C>T, NM_001323407.1:c.-16C>T, NM_178579.1:c.249C>T

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 313

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity