Linked Data
ClinVar Variation Id:
782970
ClinVar RCV Id:
RCV000964441
dbSNP Id:
rs143492892
ExAC:
X:15307659 T / A
gnomAD v2:
X-15307659-T-A
gnomAD v3:
X-15289537-T-A
gnomAD v4:
X-15289537-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15289537T>A , CM000685.2:g.15289537T>A | GRCh38 |
| NC_000023.10:g.15307659T>A , CM000685.1:g.15307659T>A | GRCh37 |
| NC_000023.9:g.15217580T>A | NCBI36 |
| NG_012627.1:g.31069A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480796.6:c.622A>T MANE Select | ENSP00000417914.1:p.Arg208Trp | |
| ENST00000344384.8:c.559A>T | ENSP00000343408.4:p.Arg187Trp | |
| ENST00000380470.7:c.571A>T | ENSP00000369837.3:p.Arg191Trp | |
| ENST00000480796.5:c.622A>T | ENSP00000417914.1:p.Arg208Trp | |
| ENST00000485437.2:c.740A>T | ENSP00000419385.2:n.740A>T | |
| NM_001012428.2:c.559A>T | NP_001012428.1:p.Arg187Trp | |
| NM_001201583.1:c.571A>T | NP_001188512.1:p.Arg191Trp | |
| NM_080873.2:c.622A>T | NP_543149.1:p.Arg208Trp | |
| XM_005274444.3:c.622A>T | XP_005274501.1:p.Arg208Trp | |
| XM_006724463.2:c.622A>T | XP_006724526.1:p.Arg208Trp | |
| XM_011545456.1:c.622A>T | XP_011543758.1:p.Arg208Trp | |
| XM_011545457.1:c.559A>T | XP_011543759.1:p.Arg187Trp | |
| NM_001201583.2:c.571A>T | NP_001188512.1:p.Arg191Trp | |
| NM_080873.3:c.622A>T MANE Select | NP_543149.1:p.Arg208Trp |