Linked Data
dbSNP Id:
rs954570561
gnomAD v2:
6-32007547-C-T
gnomAD v3:
6-32039770-C-T
gnomAD v4:
6-32039770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039770C>T , CM000668.2:g.32039770C>T | GRCh38 |
| NC_000006.11:g.32007547C>T , CM000668.1:g.32007547C>T | GRCh37 |
| NC_000006.10:g.32115526C>T | NCBI36 |
| NG_007941.2:g.6463C>T | |
| NG_008337.2:g.74605G>A | |
| NG_007941.3:g.6466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.673C>T MANE Select | ENSP00000496625.1:p.Arg225Trp | |
| ENST00000418967.6:c.673C>T | ENSP00000408860.2:p.Arg225Trp | |
| ENST00000435122.3:c.583C>T | ENSP00000415043.2:p.Arg195Trp | |
| ENST00000462278.1:n.362C>T | ||
| ENST00000466779.5:c.*365C>T | ENSP00000417321.1:n.*365C>T | |
| ENST00000466879.5:n.724C>T | ||
| ENST00000479074.5:n.731C>T | ||
| ENST00000479730.5:n.789C>T | ||
| ENST00000483041.5:n.842C>T | ||
| ENST00000486063.5:n.853C>T | ||
| NM_000500.7:c.673C>T | NP_000491.4:p.Arg225Trp | |
| NM_001128590.3:c.583C>T | NP_001122062.3:p.Arg195Trp | |
| XM_011514314.1:c.268C>T | XP_011512616.1:p.Arg90Trp | |
| NM_000500.9:c.673C>T MANE Select | NP_000491.4:p.Arg225Trp | |
| NM_001368143.1:c.268C>T | NP_001355072.1:p.Arg90Trp | |
| NM_001368144.1:c.268C>T | NP_001355073.1:p.Arg90Trp | |
| NM_001128590.4:c.583C>T | NP_001122062.3:p.Arg195Trp | |
| NM_001368143.2:c.268C>T | NP_001355072.1:p.Arg90Trp | |
| NM_001368144.2:c.268C>T | NP_001355073.1:p.Arg90Trp |