Linked Data
ClinVar Variation Id:
203827
ClinVar RCV Id:
RCV000190393
dbSNP Id:
rs796051996
gnomAD v2:
1-45974027-G-A
gnomAD v3:
1-45508355-G-A
gnomAD v4:
1-45508355-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508355G>A , CM000663.2:g.45508355G>A | GRCh38 |
| NC_000001.10:g.45974027G>A , CM000663.1:g.45974027G>A | GRCh37 |
| NC_000001.9:g.45746614G>A | NCBI36 |
| NG_013378.1:g.13172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.420G>A MANE Select | ENSP00000383840.4:p.Trp140Ter | |
| ENST00000401061.8:c.420G>A | ENSP00000383840.4:p.Trp140Ter | |
| ENST00000616135.1:c.249G>A | ENSP00000478859.1:p.Trp83Ter | |
| NM_015506.2:c.420G>A | NP_056321.2:p.Trp140Ter | |
| XM_005270724.3:c.225G>A | XP_005270781.1:p.Trp75Ter | |
| XM_011541204.1:c.249G>A | XP_011539506.1:p.Trp83Ter | |
| NM_001330540.1:c.249G>A | NP_001317469.1:p.Trp83Ter | |
| XM_005270724.5:c.225G>A | XP_005270781.1:p.Trp75Ter | |
| NM_015506.3:c.420G>A MANE Select | NP_056321.2:p.Trp140Ter | |
| NM_001330540.2:c.249G>A | NP_001317469.1:p.Trp83Ter |