Linked Data
ClinVar Variation Id:
8180
dbSNP Id:
rs121909294
ExAC:
1:15767020 G / A
gnomAD v2:
1-15767020-G-A
gnomAD v3:
1-15440524-G-A
gnomAD v4:
1-15440524-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440524G>A , CM000663.2:g.15440524G>A | GRCh38 |
| NC_000001.10:g.15767020G>A , CM000663.1:g.15767020G>A | GRCh37 |
| NC_000001.9:g.15639607G>A | NCBI36 |
| NG_009253.1:g.7083G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375949.5:c.164G>A MANE Select | ENSP00000365116.4:p.Trp55Ter | |
| ENST00000375943.6:c.41-1923G>A | ENSP00000365110.2:n.41-1923G>A | |
| ENST00000375949.4:c.164G>A | ENSP00000365116.4:p.Trp55Ter | |
| ENST00000476813.5:n.53-1923G>A | ||
| ENST00000483406.1:n.74G>A | ||
| NM_007272.2:c.164G>A | NP_009203.2:p.Trp55Ter | |
| XM_011540550.1:c.164G>A | XP_011538852.1:p.Trp55Ter | |
| NM_007272.3:c.164G>A MANE Select | NP_009203.2:p.Trp55Ter |