Linked Data
ClinVar Variation Id:
1968570
ClinVar RCV Id:
RCV002755215
dbSNP Id:
rs1461234906
gnomAD v2:
11-5247216-A-T
gnomAD v3:
11-5225986-A-T
gnomAD v4:
11-5225986-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225986A>T , CM000673.2:g.5225986A>T | GRCh38 |
| NC_000011.9:g.5247216A>T , CM000673.1:g.5247216A>T | GRCh37 |
| NC_000011.8:g.5203792A>T | NCBI36 |
| NG_000007.3:g.71630T>A | |
| NG_059281.1:g.6086T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-260T>A | ENSP00000494175.1:n.316-260T>A | |
| ENST00000335295.4:c.316-260T>A MANE Select | ENSP00000333994.3:n.316-260T>A | |
| ENST00000475226.1:n.248-260T>A | ||
| ENST00000633227.1:c.*132-260T>A | ENSP00000488004.1:n.*132-260T>A | |
| NM_000518.4:c.316-260T>A | NP_000509.1:n.316-260T>A | |
| NM_000518.5:c.316-260T>A MANE Select | NP_000509.1:n.316-260T>A |