Linked Data
ClinVar Variation Id:
365003
dbSNP Id:
rs760403428
gnomAD v2:
9-130213938-A-G
gnomAD v3:
9-127451659-A-G
gnomAD v4:
9-127451659-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127451659A>G , CM000671.2:g.127451659A>G | GRCh38 |
| NC_000009.11:g.130213938A>G , CM000671.1:g.130213938A>G | GRCh37 |
| NC_000009.10:g.129253759A>G | NCBI36 |
| NG_032008.1:g.5174A>G , LRG_373:g.5174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.-199A>G MANE Select | ENSP00000300417.6:n.-199A>G | |
| ENST00000472068.2:c.-199A>G | ENSP00000501555.1:n.-199A>G | |
| ENST00000498513.6:c.-946A>G | ENSP00000501637.1:n.-946A>G | |
| ENST00000674516.1:c.-458A>G | ENSP00000502441.1:n.-458A>G | |
| ENST00000674771.1:c.-199A>G | ENSP00000502627.1:n.-199A>G | |
| ENST00000674784.1:c.-199A>G | ENSP00000501837.1:n.-199A>G | |
| ENST00000675141.1:c.-458A>G | ENSP00000502420.1:n.-458A>G | |
| ENST00000675224.1:c.-199A>G | ENSP00000501869.1:n.-199A>G | |
| ENST00000675448.1:c.-189A>G | ENSP00000502167.1:n.-189A>G | |
| ENST00000675572.1:c.-199A>G | ENSP00000501598.1:n.-199A>G | |
| ENST00000675641.1:c.-199A>G | ENSP00000501845.1:n.-199A>G | |
| ENST00000675789.1:c.-199A>G | ENSP00000501954.1:n.-199A>G | |
| ENST00000675883.1:c.-458A>G | ENSP00000501592.1:n.-458A>G | |
| ENST00000676014.1:c.-199A>G | ENSP00000502058.1:n.-199A>G | |
| ENST00000676170.1:c.-199A>G | ENSP00000502177.1:n.-199A>G | |
| ENST00000676336.1:c.-199A>G | ENSP00000502686.1:n.-199A>G | |
| ENST00000676349.1:c.-199A>G | ENSP00000502155.1:n.-199A>G | |
| ENST00000300417.10:c.-199A>G | ENSP00000300417.6:n.-199A>G | |
| ENST00000323301.8:c.-458A>G | ENSP00000322937.4:n.-458A>G | |
| ENST00000373324.8:c.-199A>G | ENSP00000362421.4:n.-199A>G | |
| ENST00000486587.1:n.127A>G | ||
| NM_001005373.3:c.-199A>G | NP_001005373.1:n.-199A>G | |
| NM_001190723.2:c.-199A>G | NP_001177652.1:n.-199A>G | |
| NM_138361.5:c.-458A>G , LRG_373t1:c.-458A>G | NP_612370.3:n.-458A>G | |
| XM_006717316.2:c.-199A>G | XP_006717379.1:n.-199A>G | |
| XR_929874.1:n.174A>G | ||
| XM_006717316.4:c.-199A>G | XP_006717379.1:n.-199A>G | |
| XM_017015283.1:c.-1216A>G | XP_016870772.1:n.-1216A>G | |
| XM_017015284.2:c.-983A>G | XP_016870773.1:n.-983A>G | |
| XR_001746415.2:n.156A>G | ||
| XR_929874.3:n.156A>G | ||
| NM_001190723.3:c.-199A>G | NP_001177652.1:n.-199A>G | |
| NM_001005373.4:c.-199A>G MANE Select | NP_001005373.1:n.-199A>G | |
| NM_001384142.1:c.-1216A>G | NP_001371071.1:n.-1216A>G | |
| NM_001384143.1:c.-199A>G | NP_001371072.1:n.-199A>G | |
| NM_001384144.1:c.-983A>G | NP_001371073.1:n.-983A>G | |
| NR_168891.1:n.150A>G | ||
| NR_168892.1:n.150A>G |