Linked Data
dbSNP Id:
rs1343268573
gnomAD v2:
19-7755208-C-A
gnomAD v3:
19-7690322-C-A
gnomAD v4:
19-7690322-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690322C>A , CM000681.2:g.7690322C>A | GRCh38 |
| NC_000019.9:g.7755208C>A , CM000681.1:g.7755208C>A | GRCh37 |
| NC_000019.8:g.7661208C>A | NCBI36 |
| NG_029554.1:g.16825G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000597921.6:c.622-57G>T MANE Select | ENSP00000471974.1:n.622-57G>T | |
| ENST00000346664.9:c.622-57G>T | ENSP00000264072.6:n.622-57G>T | |
| ENST00000360067.8:c.619-57G>T | ENSP00000353178.4:n.619-57G>T | |
| ENST00000597312.5:n.1147-57G>T | ||
| ENST00000597921.5:c.622-57G>T | ENSP00000471974.1:n.622-57G>T | |
| ENST00000597934.1:n.984-57G>T | ||
| ENST00000598803.5:n.1117-57G>T | ||
| NM_001207019.2:c.619-57G>T | NP_001193948.2:n.619-57G>T | |
| NM_001220500.1:c.622-57G>T | NP_001207429.1:n.622-57G>T | |
| NM_002002.4:c.622-57G>T | NP_001993.2:n.622-57G>T | |
| XM_005272462.3:c.622-57G>T | XP_005272519.1:n.622-57G>T | |
| XM_005272462.4:c.622-57G>T | XP_005272519.1:n.622-57G>T | |
| NM_001220500.2:c.622-57G>T MANE Select | NP_001207429.1:n.622-57G>T | |
| NM_001207019.3:c.619-57G>T | NP_001193948.2:n.619-57G>T | |
| NM_002002.5:c.622-57G>T | NP_001993.2:n.622-57G>T |