Linked Data
dbSNP Id:
rs563202820
gnomAD v2:
1-15772411-A-G
gnomAD v3:
1-15445916-A-G
gnomAD v4:
1-15445916-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445916A>G , CM000663.2:g.15445916A>G | GRCh38 |
| NC_000001.10:g.15772411A>G , CM000663.1:g.15772411A>G | GRCh37 |
| NC_000001.9:g.15644998A>G | NCBI36 |
| NG_009253.1:g.12474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+167A>G MANE Select | ENSP00000365116.4:n.792+167A>G | |
| ENST00000375943.6:c.*246+167A>G | ENSP00000365110.2:n.*246+167A>G | |
| ENST00000375949.4:c.792+167A>G | ENSP00000365116.4:n.792+167A>G | |
| ENST00000483406.1:n.556+167A>G | ||
| NM_007272.2:c.792+167A>G | NP_009203.2:n.792+167A>G | |
| XM_011540550.1:c.646+167A>G | XP_011538852.1:n.646+167A>G | |
| NM_007272.3:c.792+167A>G MANE Select | NP_009203.2:n.792+167A>G |