Linked Data
dbSNP Id:
rs767421046
ExAC:
6:32008879 A / T
gnomAD v2:
6-32008879-A-T
gnomAD v3:
6-32041102-A-T
gnomAD v4:
6-32041102-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041102A>T , CM000668.2:g.32041102A>T | GRCh38 |
| NC_000006.11:g.32008879A>T , CM000668.1:g.32008879A>T | GRCh37 |
| NC_000006.10:g.32116858A>T | NCBI36 |
| NG_007941.2:g.7795A>T | |
| NG_008337.2:g.73273T>A | |
| NG_007941.3:g.7798A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1456A>T MANE Select | ENSP00000496625.1:p.Met486Leu | |
| ENST00000418967.6:c.1456A>T | ENSP00000408860.2:p.Met486Leu | |
| ENST00000435122.3:c.1366A>T | ENSP00000415043.2:p.Met456Leu | |
| ENST00000479074.5:n.1597A>T | ||
| ENST00000479730.5:n.1572A>T | ||
| ENST00000483041.5:n.1625A>T | ||
| ENST00000486063.5:n.1435A>T | ||
| NM_000500.7:c.1456A>T | NP_000491.4:p.Met486Leu | |
| NM_001128590.3:c.1366A>T | NP_001122062.3:p.Met456Leu | |
| XM_011514314.1:c.1051A>T | XP_011512616.1:p.Met351Leu | |
| NM_000500.9:c.1456A>T MANE Select | NP_000491.4:p.Met486Leu | |
| NM_001368143.1:c.1051A>T | NP_001355072.1:p.Met351Leu | |
| NM_001368144.1:c.1051A>T | NP_001355073.1:p.Met351Leu | |
| NM_001128590.4:c.1366A>T | NP_001122062.3:p.Met456Leu | |
| NM_001368143.2:c.1051A>T | NP_001355072.1:p.Met351Leu | |
| NM_001368144.2:c.1051A>T | NP_001355073.1:p.Met351Leu |