Linked Data
ClinVar Variation Id:
2082093
ClinVar RCV Id:
RCV002979886
dbSNP Id:
rs143770049
ExAC:
5:178556938 C / T
gnomAD v2:
5-178556938-C-T
gnomAD v3:
5-179129937-C-T
gnomAD v4:
5-179129937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179129937C>T , CM000667.2:g.179129937C>T | GRCh38 |
| NC_000005.9:g.178556938C>T , CM000667.1:g.178556938C>T | GRCh37 |
| NC_000005.8:g.178489544C>T | NCBI36 |
| NG_023212.2:g.220392G>A | |
| NG_023212.3:g.220392G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.2452G>A | ENSP00000514008.1:p.Val818Ile | |
| ENST00000251582.12:c.2452G>A MANE Select | ENSP00000251582.7:p.Val818Ile | |
| ENST00000518335.3:c.2452G>A | ENSP00000489888.2:p.Val818Ile | |
| ENST00000251582.11:c.2452G>A | ENSP00000251582.7:p.Val818Ile | |
| NM_014244.4:c.2452G>A | NP_055059.2:p.Val818Ile | |
| NM_014244.5:c.2452G>A MANE Select | NP_055059.2:p.Val818Ile |