Linked Data
ClinVar Variation Id:
445854
dbSNP Id:
rs184649564
ExAC:
6:32008862 G / T
gnomAD v2:
6-32008862-G-T
gnomAD v3:
6-32041085-G-T
gnomAD v4:
6-32041085-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041085G>T , CM000668.2:g.32041085G>T | GRCh38 |
| NC_000006.11:g.32008862G>T , CM000668.1:g.32008862G>T | GRCh37 |
| NC_000006.10:g.32116841G>T | NCBI36 |
| NG_007941.2:g.7778G>T | |
| NG_008337.2:g.73290C>A | |
| NG_007941.3:g.7781G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1439G>T MANE Select | ENSP00000496625.1:p.Arg480Leu | |
| ENST00000418967.6:c.1439G>T | ENSP00000408860.2:p.Arg480Leu | |
| ENST00000435122.3:c.1349G>T | ENSP00000415043.2:p.Arg450Leu | |
| ENST00000479074.5:n.1580G>T | ||
| ENST00000479730.5:n.1555G>T | ||
| ENST00000483041.5:n.1608G>T | ||
| ENST00000486063.5:n.1418G>T | ||
| NM_000500.7:c.1439G>T | NP_000491.4:p.Arg480Leu | |
| NM_001128590.3:c.1349G>T | NP_001122062.3:p.Arg450Leu | |
| XM_011514314.1:c.1034G>T | XP_011512616.1:p.Arg345Leu | |
| NM_000500.9:c.1439G>T MANE Select | NP_000491.4:p.Arg480Leu | |
| NM_001368143.1:c.1034G>T | NP_001355072.1:p.Arg345Leu | |
| NM_001368144.1:c.1034G>T | NP_001355073.1:p.Arg345Leu | |
| NM_001128590.4:c.1349G>T | NP_001122062.3:p.Arg450Leu | |
| NM_001368143.2:c.1034G>T | NP_001355072.1:p.Arg345Leu | |
| NM_001368144.2:c.1034G>T | NP_001355073.1:p.Arg345Leu |