Linked Data
ClinVar Variation Id:
30800
dbSNP Id:
rs587776889
ExAC:
1:45974647 G / A
gnomAD v2:
1-45974647-G-A
gnomAD v3:
1-45508975-G-A
gnomAD v4:
1-45508975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508975G>A , CM000663.2:g.45508975G>A | GRCh38 |
| NC_000001.10:g.45974647G>A , CM000663.1:g.45974647G>A | GRCh37 |
| NC_000001.9:g.45747234G>A | NCBI36 |
| NG_013378.1:g.13792G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.609G>A MANE Select | ENSP00000383840.4:p.Trp203Ter | |
| ENST00000401061.8:c.609G>A | ENSP00000383840.4:p.Trp203Ter | |
| ENST00000616135.1:c.438G>A | ENSP00000478859.1:p.Trp146Ter | |
| NM_015506.2:c.609G>A | NP_056321.2:p.Trp203Ter | |
| XM_005270724.3:c.414G>A | XP_005270781.1:p.Trp138Ter | |
| XM_011541204.1:c.438G>A | XP_011539506.1:p.Trp146Ter | |
| NM_001330540.1:c.438G>A | NP_001317469.1:p.Trp146Ter | |
| XM_005270724.5:c.414G>A | XP_005270781.1:p.Trp138Ter | |
| NM_015506.3:c.609G>A MANE Select | NP_056321.2:p.Trp203Ter | |
| NM_001330540.2:c.438G>A | NP_001317469.1:p.Trp146Ter |