Linked Data
dbSNP Id:
rs200626488
gnomAD v2:
3-119526084-G-A
gnomAD v3:
3-119807237-G-A
gnomAD v4:
3-119807237-G-A
COSMIC:
COSM3120215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807237G>A , CM000665.2:g.119807237G>A | GRCh38 |
| NC_000003.11:g.119526084G>A , CM000665.1:g.119526084G>A | GRCh37 |
| NC_000003.10:g.121008774G>A | NCBI36 |
| NG_011856.1:g.31754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.-14G>A MANE Select | ENSP00000377319.3:n.-14G>A | |
| ENST00000466380.6:c.-14G>A | ENSP00000420297.2:n.-14G>A | |
| ENST00000648112.1:c.*10G>A | ENSP00000497876.1:n.*10G>A | |
| ENST00000337940.4:c.104G>A | ENSP00000336528.4:p.Gly35Asp | |
| ENST00000393716.6:c.-14G>A | ENSP00000377319.2:n.-14G>A | |
| ENST00000466380.5:c.-14G>A | ENSP00000420297.1:n.-14G>A | |
| ENST00000474090.1:n.275G>A | ||
| NM_003889.3:c.-14G>A | NP_003880.3:n.-14G>A | |
| NM_022002.2:c.104G>A | NP_071285.1:p.Gly35Asp | |
| NM_033013.2:c.-14G>A | NP_148934.1:n.-14G>A | |
| NM_003889.4:c.-14G>A MANE Select | NP_003880.3:n.-14G>A | |
| NM_022002.3:c.104G>A | NP_071285.1:p.Gly35Asp | |
| NM_033013.3:c.-14G>A | NP_148934.1:n.-14G>A |