Linked Data
ClinVar Variation Id:
288470
dbSNP Id:
rs745861610
ExAC:
1:120468127 C / T
gnomAD v2:
1-120468127-C-T
gnomAD v3:
1-119925504-C-T
gnomAD v4:
1-119925504-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119925504C>T , CM000663.2:g.119925504C>T | GRCh38 |
| NC_000001.10:g.120468127C>T , CM000663.1:g.120468127C>T | GRCh37 |
| NC_000001.9:g.120269650C>T | NCBI36 |
| NG_008163.1:g.149150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.4312G>A MANE Select | ENSP00000256646.2:p.Val1438Ile | |
| ENST00000256646.6:c.4312G>A | ENSP00000256646.2:p.Val1438Ile | |
| NM_024408.3:c.4312G>A | NP_077719.2:p.Val1438Ile | |
| XM_005270901.2:c.4195G>A | XP_005270958.1:p.Val1399Ile | |
| XM_011541519.1:c.4300G>A | XP_011539821.1:p.Val1434Ile | |
| XM_011541520.1:c.4195G>A | XP_011539822.1:p.Val1399Ile | |
| NM_024408.4:c.4312G>A MANE Select | NP_077719.2:p.Val1438Ile |