Linked Data
ClinVar Variation Id:
241838
ClinVar RCV Id:
RCV000227816
dbSNP Id:
rs201284198
ExAC:
9:130263306 G / T
gnomAD v2:
9-130263306-G-T
gnomAD v3:
9-127501027-G-T
gnomAD v4:
9-127501027-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501027G>T , CM000671.2:g.127501027G>T | GRCh38 |
| NC_000009.11:g.130263306G>T , CM000671.1:g.130263306G>T | GRCh37 |
| NC_000009.10:g.129303127G>T | NCBI36 |
| NG_032008.1:g.54542G>T , LRG_373:g.54542G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1930G>T MANE Select | ENSP00000300417.6:p.Gly644Cys | |
| ENST00000472068.2:c.*1654G>T | ENSP00000501555.1:n.*1654G>T | |
| ENST00000483302.6:n.2595G>T | ||
| ENST00000498513.6:c.*821G>T | ENSP00000501637.1:n.*821G>T | |
| ENST00000674511.1:n.1529G>T | ||
| ENST00000674516.1:c.*546G>T | ENSP00000502441.1:n.*546G>T | |
| ENST00000674621.1:n.1861-2346G>T | ||
| ENST00000674771.1:c.*573G>T | ENSP00000502627.1:n.*573G>T | |
| ENST00000674784.1:c.*990G>T | ENSP00000501837.1:n.*990G>T | |
| ENST00000674970.1:c.*1704G>T | ENSP00000502493.1:n.*1704G>T | |
| ENST00000675012.1:n.1874G>T | ||
| ENST00000675141.1:c.1831G>T | ENSP00000502420.1:p.Gly611Cys | |
| ENST00000675198.1:n.1810G>T | ||
| ENST00000675213.1:c.1885G>T | ENSP00000502218.1:p.Gly629Cys | |
| ENST00000675224.1:c.1958G>T | ENSP00000501869.1:p.Gly653Val | |
| ENST00000675253.1:c.*602G>T | ENSP00000502557.1:n.*602G>T | |
| ENST00000675445.1:c.*1602G>T | ENSP00000502253.1:n.*1602G>T | |
| ENST00000675448.1:c.1930G>T | ENSP00000502167.1:p.Gly644Cys | |
| ENST00000675521.1:n.1840G>T | ||
| ENST00000675572.1:c.1831G>T | ENSP00000501598.1:p.Gly611Cys | |
| ENST00000675641.1:c.*672G>T | ENSP00000501845.1:n.*672G>T | |
| ENST00000675657.1:c.*543G>T | ENSP00000502002.1:n.*543G>T | |
| ENST00000675662.1:n.1725G>T | ||
| ENST00000675789.1:c.1750G>T | ENSP00000501954.1:p.Gly584Cys | |
| ENST00000675883.1:c.1849G>T | ENSP00000501592.1:p.Gly617Cys | |
| ENST00000675945.1:c.*571G>T | ENSP00000501835.1:n.*571G>T | |
| ENST00000676014.1:c.1873G>T | ENSP00000502058.1:p.Gly625Cys | |
| ENST00000676035.1:n.1592G>T | ||
| ENST00000676106.1:n.1967G>T | ||
| ENST00000676137.1:n.1960G>T | ||
| ENST00000676170.1:c.2011G>T | ENSP00000502177.1:p.Gly671Cys | |
| ENST00000676318.1:c.*2760G>T | ENSP00000502300.1:n.*2760G>T | |
| ENST00000676336.1:c.*543G>T | ENSP00000502686.1:n.*543G>T | |
| ENST00000676349.1:c.*1618G>T | ENSP00000502155.1:n.*1618G>T | |
| ENST00000676399.1:n.1833G>T | ||
| ENST00000676409.1:n.1990G>T | ||
| ENST00000300417.10:c.1930G>T | ENSP00000300417.6:p.Gly644Cys | |
| ENST00000323301.8:c.1930G>T | ENSP00000322937.4:p.Gly644Cys | |
| ENST00000373322.1:c.1930G>T | ENSP00000362419.1:p.Gly644Cys | |
| ENST00000373324.8:c.1849G>T | ENSP00000362421.4:p.Gly617Cys | |
| ENST00000472068.1:n.823G>T | ||
| ENST00000483302.5:n.1152G>T | ||
| NM_001005373.3:c.1930G>T | NP_001005373.1:p.Gly644Cys | |
| NM_001005374.3:c.1930G>T | NP_001005374.1:p.Gly644Cys | |
| NM_001190723.2:c.1849G>T | NP_001177652.1:p.Gly617Cys | |
| NM_138361.5:c.1930G>T , LRG_373t1:c.1930G>T | NP_612370.3:p.Gly644Cys | |
| XM_006717316.2:c.1831G>T | XP_006717379.1:p.Gly611Cys | |
| XM_006717316.4:c.1831G>T | XP_006717379.1:p.Gly611Cys | |
| XM_017015283.1:c.1930G>T | XP_016870772.1:p.Gly644Cys | |
| XM_017015284.2:c.1141G>T | XP_016870773.1:p.Gly381Cys | |
| XR_001746415.2:n.2465G>T | ||
| XR_929874.3:n.2289G>T | ||
| NM_001190723.3:c.1849G>T | NP_001177652.1:p.Gly617Cys | |
| NM_001005373.4:c.1930G>T MANE Select | NP_001005373.1:p.Gly644Cys | |
| NM_001005374.4:c.1930G>T | NP_001005374.1:p.Gly644Cys | |
| NM_001384142.1:c.1930G>T | NP_001371071.1:p.Gly644Cys | |
| NM_001384143.1:c.1831G>T | NP_001371072.1:p.Gly611Cys | |
| NM_001384144.1:c.1141G>T | NP_001371073.1:p.Gly381Cys | |
| NR_168891.1:n.2459G>T | ||
| NR_168892.1:n.2283G>T |