Linked Data
ClinVar Variation Id:
517514
ClinVar RCV Id:
RCV000610674
dbSNP Id:
rs761442523
ExAC:
3:121740928 G / A
gnomAD v2:
3-121740928-G-A
gnomAD v4:
3-122022081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122022081G>A , CM000665.2:g.122022081G>A | GRCh38 |
| NC_000003.11:g.121740928G>A , CM000665.1:g.121740928G>A | GRCh37 |
| NC_000003.10:g.123223618G>A | NCBI36 |
| NG_031870.1:g.5200C>T | |
| NG_031870.2:g.43474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.-4C>T MANE Select | ENSP00000345667.5:n.-4C>T | |
| ENST00000642615.1:c.-4C>T | ENSP00000495499.1:n.-4C>T | |
| ENST00000273691.7:c.-4C>T | ENSP00000273691.3:n.-4C>T | |
| ENST00000344209.9:c.-4C>T | ENSP00000345667.5:n.-4C>T | |
| ENST00000393631.5:c.-4C>T | ENSP00000377251.1:n.-4C>T | |
| ENST00000460554.1:n.118C>T | ||
| NM_001199799.1:c.-4C>T | NP_001186728.1:n.-4C>T | |
| NM_001199800.1:c.-4C>T | NP_001186729.1:n.-4C>T | |
| NM_175924.3:c.-4C>T | NP_787120.1:n.-4C>T | |
| XM_011512738.1:c.-4C>T | XP_011511040.1:n.-4C>T | |
| XM_011512739.1:c.-347-14920C>T | XP_011511041.1:n.-347-14920C>T | |
| XM_011512738.2:c.-4C>T | XP_011511040.1:n.-4C>T | |
| XM_011512739.2:c.-347-14920C>T | XP_011511041.1:n.-347-14920C>T | |
| NM_001199799.2:c.-4C>T MANE Select | NP_001186728.1:n.-4C>T | |
| NM_001199800.2:c.-4C>T | NP_001186729.1:n.-4C>T | |
| NM_175924.4:c.-4C>T | NP_787120.1:n.-4C>T |