Linked Data
dbSNP Id:
rs766172178
ExAC:
11:17574921 C / A
gnomAD v2:
11-17574921-C-A
gnomAD v4:
11-17553374-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553374C>A , CM000673.2:g.17553374C>A | GRCh38 |
| NC_000011.9:g.17574921C>A , CM000673.1:g.17574921C>A | GRCh37 |
| NC_000011.8:g.17531497C>A | NCBI36 |
| NG_033191.1:g.11002C>A | |
| NG_033191.2:g.11002C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.431C>A | ENSP00000382323.2:p.Ala144Asp | |
| ENST00000399397.6:c.395C>A MANE Select | ENSP00000382329.2:p.Ala132Asp | |
| ENST00000399391.6:c.431C>A | ENSP00000382323.2:p.Ala144Asp | |
| ENST00000399397.5:c.395C>A | ENSP00000382329.2:p.Ala132Asp | |
| ENST00000428619.1:c.212C>A | ENSP00000399057.2:p.Ala71Asp | |
| ENST00000498332.5:n.301C>A | ||
| NM_001277269.1:c.431C>A | NP_001264198.1:p.Ala144Asp | |
| NM_001292063.1:c.395C>A | NP_001278992.1:p.Ala132Asp | |
| NM_001277269.2:c.431C>A | NP_001264198.1:p.Ala144Asp | |
| NM_001292063.2:c.395C>A MANE Select | NP_001278992.1:p.Ala132Asp |