Linked Data
ClinVar Variation Id:
3626
dbSNP Id:
rs119468010
ExAC:
17:56350196 G / A
gnomAD v2:
17-56350196-G-A
gnomAD v3:
17-58272835-G-A
gnomAD v4:
17-58272835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272835G>A , CM000679.2:g.58272835G>A | GRCh38 |
| NC_000017.10:g.56350196G>A , CM000679.1:g.56350196G>A | GRCh37 |
| NC_000017.9:g.53705195G>A | NCBI36 |
| NG_009629.1:g.13101C>T , LRG_84:g.13101C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578493.2:n.1038C>T | ||
| ENST00000699291.1:c.830C>T | ENSP00000514272.1:n.830C>T | |
| ENST00000699292.1:n.1240C>T | ||
| ENST00000225275.4:c.1705C>T MANE Select | ENSP00000225275.3:p.Arg569Trp | |
| ENST00000225275.3:c.1705C>T | ENSP00000225275.3:p.Arg569Trp | |
| ENST00000577220.1:c.163C>T | ENSP00000464668.1:p.Arg55Trp | |
| NM_000250.1:c.1705C>T , LRG_84t1:c.1705C>T | NP_000241.1:p.Arg569Trp | |
| XM_011524821.1:c.1891C>T | XP_011523123.1:p.Arg631Trp | |
| XM_011524822.1:c.1420C>T | XP_011523124.1:p.Arg474Trp | |
| NM_000250.2:c.1705C>T MANE Select | NP_000241.1:p.Arg569Trp |