Linked Data
ClinVar Variation Id:
1938353
ClinVar RCV Id:
RCV002646303
dbSNP Id:
rs773054749
ExAC:
17:48069097 C / A
gnomAD v2:
17-48069097-C-A
gnomAD v3:
17-49991733-C-A
gnomAD v4:
17-49991733-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991733C>A , CM000679.2:g.49991733C>A | GRCh38 |
| NC_000017.10:g.48069097C>A , CM000679.1:g.48069097C>A | GRCh37 |
| NC_000017.9:g.45424096C>A | NCBI36 |
| NG_023063.1:g.8492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.648G>T MANE Select | ENSP00000389870.2:p.Trp216Cys | |
| ENST00000512495.2:c.288G>T | ENSP00000449976.1:p.Trp96Cys | |
| NM_005220.2:c.648G>T | NP_005211.1:p.Trp216Cys | |
| XM_011524458.1:c.516+1667G>T | XP_011522760.1:n.516+1667G>T | |
| NM_005220.3:c.648G>T MANE Select | NP_005211.1:p.Trp216Cys |