Linked Data
ClinVar Variation Id:
1571
ClinVar RCV Id:
RCV001214384
dbSNP Id:
rs104894596
ExAC:
17:40695468 C / T
gnomAD v2:
17-40695468-C-T
gnomAD v3:
17-42543450-C-T
gnomAD v4:
17-42543450-C-T
PubMed:
PMID:12202988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543450C>T , CM000679.2:g.42543450C>T | GRCh38 |
| NC_000017.10:g.40695468C>T , CM000679.1:g.40695468C>T | GRCh37 |
| NC_000017.9:g.37948994C>T | NCBI36 |
| NG_011552.1:g.12518C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.1444C>T MANE Select | ENSP00000225927.1:p.Arg482Trp | |
| ENST00000225927.6:c.1444C>T | ENSP00000225927.1:p.Arg482Trp | |
| ENST00000591587.1:c.782C>T | ENSP00000467836.1:n.782C>T | |
| ENST00000592454.1:c.483C>T | ||
| NM_000263.3:c.1444C>T | NP_000254.2:p.Arg482Trp | |
| XM_006721920.2:c.613C>T | XP_006721983.1:p.Arg205Trp | |
| XM_011524840.1:c.445C>T | XP_011523142.1:p.Arg149Trp | |
| XM_017024687.1:c.613C>T | XP_016880176.1:p.Arg205Trp | |
| XM_024450771.1:c.1501C>T | XP_024306539.1:p.Arg501Trp | |
| XM_024450772.1:c.445C>T | XP_024306540.1:p.Arg149Trp | |
| NM_000263.4:c.1444C>T MANE Select | NP_000254.2:p.Arg482Trp |