Linked Data
dbSNP Id:
rs928196365
gnomAD v2:
6-1613131-G-A
gnomAD v3:
6-1612896-G-A
gnomAD v4:
6-1612896-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612896G>A , CM000668.2:g.1612896G>A | GRCh38 |
| NC_000006.11:g.1613131G>A , CM000668.1:g.1613131G>A | GRCh37 |
| NC_000006.10:g.1558130G>A | NCBI36 |
| NG_009368.1:g.7451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*789G>A MANE Select | ENSP00000493906.1:n.*789G>A | |
| ENST00000380874.3:c.*789G>A | ENSP00000370256.2:n.*789G>A | |
| NM_001453.2:c.2451G>A | NP_001444.2:n.2451G>A | |
| NM_001453.3:c.*789G>A MANE Select | NP_001444.2:n.*789G>A |