Linked Data
dbSNP Id:
rs1391501908
gnomAD v2:
6-1613140-T-A
gnomAD v3:
6-1612905-T-A
gnomAD v4:
6-1612905-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612905T>A , CM000668.2:g.1612905T>A | GRCh38 |
| NC_000006.11:g.1613140T>A , CM000668.1:g.1613140T>A | GRCh37 |
| NC_000006.10:g.1558139T>A | NCBI36 |
| NG_009368.1:g.7460T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*798T>A MANE Select | ENSP00000493906.1:n.*798T>A | |
| ENST00000380874.3:c.*798T>A | ENSP00000370256.2:n.*798T>A | |
| NM_001453.2:c.2460T>A | NP_001444.2:n.2460T>A | |
| NM_001453.3:c.*798T>A MANE Select | NP_001444.2:n.*798T>A |