Linked Data
ClinVar Variation Id:
433303
ClinVar RCV Id:
RCV000499329
dbSNP Id:
rs72657694
PubMed:
PMID:16086317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165761G>T , CM000678.2:g.16165761G>T | GRCh38 |
| NC_000016.9:g.16259618G>T , CM000678.1:g.16259618G>T | GRCh37 |
| NC_000016.8:g.16167119G>T | NCBI36 |
| NG_007558.2:g.62711C>A | |
| NG_007558.3:g.62857C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3168C>A | ENSP00000483331.2:p.Asp1056Glu | |
| ENST00000205557.12:c.3168C>A MANE Select | ENSP00000205557.7:p.Asp1056Glu | |
| ENST00000640696.1:c.183C>A | ENSP00000492197.1:p.Asp61Glu | |
| ENST00000205557.11:c.3168C>A | ENSP00000205557.7:p.Asp1056Glu | |
| ENST00000456970.6:c.2993C>A | ENSP00000405002.2:n.2993C>A | |
| ENST00000622290.4:c.*377C>A | ENSP00000483331.1:n.*377C>A | |
| NM_001171.5:c.3168C>A | NP_001162.4:p.Asp1056Glu | |
| XM_011522479.1:c.3135C>A | XP_011520781.1:p.Asp1045Glu | |
| XM_011522480.1:c.2826C>A | XP_011520782.1:p.Asp942Glu | |
| XM_011522481.1:c.2826C>A | XP_011520783.1:p.Asp942Glu | |
| XR_932836.1:n.3403C>A | ||
| XR_932837.1:n.3404C>A | ||
| XR_932838.1:n.3404C>A | ||
| NM_001351800.1:c.2826C>A | NP_001338729.1:p.Asp942Glu | |
| NR_147784.1:n.3030C>A | ||
| XM_011522479.2:c.3135C>A | XP_011520781.1:p.Asp1045Glu | |
| XM_011522481.3:c.2826C>A | XP_011520783.1:p.Asp942Glu | |
| XM_017023212.1:c.3000C>A | XP_016878701.1:p.Asp1000Glu | |
| XM_017023214.1:c.3168C>A | XP_016878703.1:p.Asp1056Glu | |
| XM_024450261.1:c.3204C>A | XP_024306029.1:p.Asp1068Glu | |
| XR_932836.2:n.3349C>A | ||
| XR_932837.3:n.3349C>A | ||
| XR_932838.3:n.3349C>A | ||
| NM_001171.6:c.3168C>A MANE Select | NP_001162.5:p.Asp1056Glu |