Linked Data
ClinVar Variation Id:
1879
dbSNP Id:
rs121918250
gnomAD v3:
6-49451668-G-T
gnomAD v4:
6-49451668-G-T
COSMIC:
COSM3662608
PubMed:
PMID:1977311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451668G>T , CM000668.2:g.49451668G>T | GRCh38 |
| NC_000006.11:g.49419381G>T , CM000668.1:g.49419381G>T | GRCh37 |
| NC_000006.10:g.49527340G>T | NCBI36 |
| NG_007100.1:g.16472C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.1130C>A MANE Select | ENSP00000274813.3:p.Ala377Glu | |
| ENST00000274813.3:c.1130C>A | ENSP00000274813.3:p.Ala377Glu | |
| NM_000255.3:c.1130C>A | NP_000246.2:p.Ala377Glu | |
| XM_005249143.2:c.1130C>A | XP_005249200.1:p.Ala377Glu | |
| XM_005249143.3:c.1130C>A | XP_005249200.1:p.Ala377Glu | |
| NM_000255.4:c.1130C>A MANE Select | NP_000246.2:p.Ala377Glu |