Linked Data
dbSNP Id:
rs375635406
ExAC:
10:115804010 C / A
gnomAD v2:
10-115804010-C-A
gnomAD v3:
10-114044251-C-A
gnomAD v4:
10-114044251-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044251C>A , CM000672.2:g.114044251C>A | GRCh38 |
| NC_000010.10:g.115804010C>A , CM000672.1:g.115804010C>A | GRCh37 |
| NC_000010.9:g.115794000C>A | NCBI36 |
| NG_012187.1:g.5205C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.119C>A MANE Select | ENSP00000358301.2:p.Ala40Asp | |
| ENST00000369295.3:c.119C>A | ENSP00000358301.2:p.Ala40Asp | |
| NM_000684.2:c.119C>A | NP_000675.1:p.Ala40Asp | |
| NM_000684.3:c.119C>A MANE Select | NP_000675.1:p.Ala40Asp |