Linked Data
ClinVar Variation Id:
50364
dbSNP Id:
rs587776961
gnomAD v2:
X-48762195-C-T
gnomAD v4:
X-48904918-C-T
PubMed:
PMID:23561849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48904918C>T , CM000685.2:g.48904918C>T | GRCh38 |
| NC_000023.10:g.48762195C>T , CM000685.1:g.48762195C>T | GRCh37 |
| NC_000023.9:g.48647139C>T | NCBI36 |
| NG_015967.1:g.12001C>T | |
| NG_034300.1:g.12041G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247138.11:c.991G>A MANE Select | ENSP00000247138.5:p.Val331Ile | |
| ENST00000247138.10:c.991G>A | ENSP00000247138.5:p.Val331Ile | |
| ENST00000376515.8:c.355-26G>A | ENSP00000365698.3:n.355-26G>A | |
| ENST00000376521.6:c.991G>A | ENSP00000365704.1:p.Val331Ile | |
| ENST00000376529.8:c.427-26G>A | ENSP00000365712.3:n.427-26G>A | |
| ENST00000413561.7:c.553G>A | ||
| ENST00000445167.7:c.427-26G>A | ENSP00000402726.2:n.427-26G>A | |
| ENST00000452555.7:c.1075G>A | ENSP00000416002.2:p.Val359Ile | |
| ENST00000616181.5:c.1030G>A | ENSP00000478617.1:p.Val344Ile | |
| ENST00000635285.1:c.991G>A | ENSP00000489484.1:p.Val331Ile | |
| ENST00000635460.1:c.425-1453G>A | ||
| ENST00000635589.1:c.808G>A | ENSP00000489197.1:p.Val270Ile | |
| ENST00000635628.1:c.*885G>A | ENSP00000489613.1:n.*885G>A | |
| NM_001032289.2:c.427-26G>A | NP_001027460.1:n.427-26G>A | |
| NM_001042498.2:c.991G>A | NP_001035963.1:p.Val331Ile | |
| NM_001282647.1:c.427-26G>A | NP_001269576.1:n.427-26G>A | |
| NM_001282648.1:c.355-26G>A | NP_001269577.1:n.355-26G>A | |
| NM_001282649.1:c.808G>A | NP_001269578.1:p.Val270Ile | |
| NM_001282650.1:c.1030G>A | NP_001269579.1:p.Val344Ile | |
| NM_001282651.1:c.1075G>A | NP_001269580.1:p.Val359Ile | |
| NM_005660.2:c.991G>A | NP_005651.1:p.Val331Ile | |
| NM_005660.3:c.991G>A MANE Select | NP_005651.1:p.Val331Ile | |
| NM_001032289.3:c.427-26G>A | NP_001027460.1:n.427-26G>A | |
| NM_001042498.3:c.991G>A | NP_001035963.1:p.Val331Ile | |
| NM_001282647.2:c.427-26G>A | NP_001269576.1:n.427-26G>A | |
| NM_001282649.2:c.808G>A | NP_001269578.1:p.Val270Ile | |
| NM_001282650.2:c.1030G>A | NP_001269579.1:p.Val344Ile | |
| NM_001282651.2:c.1075G>A | NP_001269580.1:p.Val359Ile | |
| NM_001282648.2:c.355-26G>A | NP_001269577.1:n.355-26G>A |