Linked Data
ClinVar Variation Id:
198292
dbSNP Id:
rs367856134
ExAC:
X:17743829 G / A
gnomAD v2:
X-17743829-G-A
gnomAD v3:
X-17725709-G-A
gnomAD v4:
X-17725709-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17725709G>A , CM000685.2:g.17725709G>A | GRCh38 |
| NC_000023.10:g.17743829G>A , CM000685.1:g.17743829G>A | GRCh37 |
| NC_000023.9:g.17653750G>A | NCBI36 |
| NG_011553.2:g.355290G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1998G>A | ||
| ENST00000690213.1:n.3483G>A | ||
| ENST00000690608.1:n.560G>A | ||
| ENST00000676302.1:c.1603G>A MANE Select | ENSP00000502262.1:p.Val535Met | |
| ENST00000380060.7:c.1540G>A | ENSP00000369400.3:p.Val514Met | |
| ENST00000398097.7:c.1072G>A | ENSP00000381170.3:p.Val358Met | |
| ENST00000615422.1:c.1063G>A | ENSP00000480113.1:p.Val355Met | |
| ENST00000617601.4:c.991G>A | ENSP00000478433.1:p.Val331Met | |
| NM_001136024.3:c.1072G>A | NP_001129496.1:p.Val358Met | |
| NM_001291867.1:c.1603G>A | NP_001278796.1:p.Val535Met | |
| NM_001291868.1:c.1009G>A | NP_001278797.1:p.Val337Met | |
| NM_198270.3:c.1540G>A | NP_938011.1:p.Val514Met | |
| XM_011545528.1:c.655G>A | XP_011543830.1:p.Val219Met | |
| XM_011545528.2:c.655G>A | XP_011543830.1:p.Val219Met | |
| NM_001136024.4:c.1072G>A | NP_001129496.1:p.Val358Met | |
| NM_001291867.2:c.1603G>A MANE Select | NP_001278796.1:p.Val535Met | |
| NM_001291868.2:c.1009G>A | NP_001278797.1:p.Val337Met | |
| NM_198270.4:c.1540G>A | NP_938011.1:p.Val514Met |