Linked Data
ClinVar Variation Id:
1949612
ClinVar RCV Id:
RCV002676348
dbSNP Id:
rs1242313514
gnomAD v2:
X-119582891-C-T
gnomAD v4:
X-120449036-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120449036C>T , CM000685.2:g.120449036C>T | GRCh38 |
| NC_000023.10:g.119582891C>T , CM000685.1:g.119582891C>T | GRCh37 |
| NC_000023.9:g.119466919C>T | NCBI36 |
| NG_007995.1:g.25314G>A , LRG_749:g.25314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.490G>A | ENSP00000516464.1:p.Val164Ile | |
| ENST00000200639.9:c.490G>A MANE Select | ENSP00000200639.4:p.Val164Ile | |
| ENST00000200639.8:c.490G>A | ENSP00000200639.4:p.Val164Ile | |
| ENST00000371335.4:c.490G>A | ENSP00000360386.4:p.Val164Ile | |
| ENST00000434600.6:c.490G>A | ENSP00000408411.2:p.Val164Ile | |
| ENST00000486593.5:c.33G>A | ||
| NM_001122606.1:c.490G>A , LRG_749t3:c.490G>A | NP_001116078.1:p.Val164Ile | |
| NM_002294.2:c.490G>A , LRG_749t1:c.490G>A | NP_002285.1:p.Val164Ile | |
| NM_013995.2:c.490G>A , LRG_749t2:c.490G>A | NP_054701.1:p.Val164Ile | |
| NM_002294.3:c.490G>A MANE Select | NP_002285.1:p.Val164Ile |