Linked Data
ClinVar Variation Id:
44416
dbSNP Id:
rs12097
ExAC:
X:119590533 T / A
gnomAD v2:
X-119590533-T-A
gnomAD v3:
X-120456678-T-A
gnomAD v4:
X-120456678-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120456678T>A , CM000685.2:g.120456678T>A | GRCh38 |
| NC_000023.10:g.119590533T>A , CM000685.1:g.119590533T>A | GRCh37 |
| NC_000023.9:g.119474561T>A | NCBI36 |
| NG_007995.1:g.17672A>T , LRG_749:g.17672A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.156A>T | ENSP00000516464.1:p.Val52= | |
| ENST00000200639.9:c.156A>T MANE Select | ENSP00000200639.4:p.Val52= | |
| ENST00000200639.8:c.156A>T | ENSP00000200639.4:p.Val52= | |
| ENST00000371335.4:c.156A>T | ENSP00000360386.4:p.Val52= | |
| ENST00000434600.6:c.156A>T | ENSP00000408411.2:p.Val52= | |
| NM_001122606.1:c.156A>T , LRG_749t3:c.156A>T | NP_001116078.1:p.Val52= | |
| NM_002294.2:c.156A>T , LRG_749t1:c.156A>T | NP_002285.1:p.Val52= | |
| NM_013995.2:c.156A>T , LRG_749t2:c.156A>T | NP_054701.1:p.Val52= | |
| NM_002294.3:c.156A>T MANE Select | NP_002285.1:p.Val52= |