Linked Data
dbSNP Id:
rs763513290
ExAC:
20:56140438 C / T
gnomAD v2:
20-56140438-C-T
gnomAD v4:
20-57565382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565382C>T , CM000682.2:g.57565382C>T | GRCh38 |
| NC_000020.10:g.56140438C>T , CM000682.1:g.56140438C>T | GRCh37 |
| NC_000020.9:g.55573844C>T | NCBI36 |
| NG_008205.1:g.9302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1447C>T MANE Select | ENSP00000319814.4:p.Arg483Trp | |
| ENST00000319441.5:c.1447C>T | ENSP00000319814.4:p.Arg483Trp | |
| ENST00000467047.1:n.4089C>T | ||
| ENST00000485958.1:n.571C>T | ||
| NM_002591.3:c.1447C>T | NP_002582.3:p.Arg483Trp | |
| XM_011528839.1:c.1051C>T | XP_011527141.1:p.Arg351Trp | |
| XM_024451888.1:c.1051C>T | XP_024307656.1:p.Arg351Trp | |
| NM_002591.4:c.1447C>T MANE Select | NP_002582.3:p.Arg483Trp |