Linked Data
ClinVar Variation Id:
56560
ClinVar RCV Id:
RCV000049973
dbSNP Id:
rs386833996
ExAC:
6:74325166 C / T
gnomAD v4:
6-73615443-C-T
PubMed:
PMID:15172005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73615443C>T , CM000668.2:g.73615443C>T | GRCh38 |
| NC_000006.11:g.74325166C>T , CM000668.1:g.74325166C>T | GRCh37 |
| NC_000006.10:g.74381887C>T | NCBI36 |
| NG_008272.1:g.43572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.983G>A MANE Select | ENSP00000348019.5:p.Gly328Glu | |
| ENST00000355773.5:c.983G>A | ENSP00000348019.5:p.Gly328Glu | |
| NM_012434.4:c.983G>A | NP_036566.1:p.Gly328Glu | |
| XM_005248710.2:c.932G>A | XP_005248767.1:p.Gly311Glu | |
| XM_005248711.1:c.785G>A | XP_005248768.1:p.Gly262Glu | |
| XM_011535750.1:c.983G>A | XP_011534052.1:p.Gly328Glu | |
| NM_012434.5:c.983G>A MANE Select | NP_036566.1:p.Gly328Glu | |
| NM_001382629.1:c.752G>A | NP_001369558.1:p.Gly251Glu | |
| NM_001382630.1:c.983G>A | NP_001369559.1:p.Gly328Glu | |
| NM_001382631.1:c.1004G>A | NP_001369560.1:p.Gly335Glu | |
| NM_001382632.1:c.896G>A | NP_001369561.1:p.Gly299Glu | |
| NM_001382633.1:c.983G>A | NP_001369562.1:p.Gly328Glu | |
| NM_001382634.1:c.824G>A | NP_001369563.1:p.Gly275Glu | |
| NM_001382635.1:c.980G>A | NP_001369564.1:p.Gly327Glu | |
| NM_001382636.1:c.665G>A | NP_001369565.1:p.Gly222Glu |