Linked Data
dbSNP Id:
rs769391020
ExAC:
13:110822051 G / T
gnomAD v2:
13-110822051-G-T
gnomAD v4:
13-110169704-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169704G>T , CM000675.2:g.110169704G>T | GRCh38 |
| NC_000013.10:g.110822051G>T , CM000675.1:g.110822051G>T | GRCh37 |
| NC_000013.9:g.109620052G>T | NCBI36 |
| NG_011544.2:g.142446C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3801C>A MANE Select | ENSP00000364979.4:p.Asp1267Glu | |
| ENST00000375820.8:c.3801C>A | ENSP00000364979.4:p.Asp1267Glu | |
| NM_001845.5:c.3801C>A | NP_001836.3:p.Asp1267Glu | |
| XM_011521048.1:c.3609C>A | XP_011519350.1:p.Asp1203Glu | |
| XM_011521048.2:c.3609C>A | XP_011519350.1:p.Asp1203Glu | |
| NM_001845.6:c.3801C>A MANE Select | NP_001836.3:p.Asp1267Glu |