Linked Data
ClinVar Variation Id:
1596936
ClinVar RCV Id:
RCV002127085
dbSNP Id:
rs137852242
ExAC:
X:138633379 G / A
gnomAD v2:
X-138633379-G-A
gnomAD v4:
X-139551220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139551220G>A , CM000685.2:g.139551220G>A | GRCh38 |
| NC_000023.10:g.138633379G>A , CM000685.1:g.138633379G>A | GRCh37 |
| NC_000023.9:g.138461045G>A | NCBI36 |
| NG_007994.1:g.25485G>A , LRG_556:g.25485G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.679G>A MANE Select | ENSP00000218099.2:p.Val227Ile | |
| ENST00000643157.1:n.1346G>A | ||
| ENST00000218099.6:c.679G>A | ENSP00000218099.2:p.Val227Ile | |
| ENST00000394090.2:c.565G>A | ENSP00000377650.2:p.Val189Ile | |
| NM_000133.3:c.679G>A , LRG_556t1:c.679G>A | NP_000124.1:p.Val227Ile | |
| NM_001313913.1:c.565G>A | NP_001300842.1:p.Val189Ile | |
| XM_005262397.3:c.550G>A | XP_005262454.1:p.Val184Ile | |
| XM_005262397.4:c.550G>A | XP_005262454.1:p.Val184Ile | |
| NM_000133.4:c.679G>A MANE Select | NP_000124.1:p.Val227Ile | |
| NM_001313913.2:c.565G>A | NP_001300842.1:p.Val189Ile |