Linked Data
dbSNP Id:
rs113434890
ExAC:
17:76563158 G / A
gnomAD v2:
17-76563158-G-A
gnomAD v3:
17-78567076-G-A
gnomAD v4:
17-78567076-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78567076G>A , CM000679.2:g.78567076G>A | GRCh38 |
| NC_000017.10:g.76563158G>A , CM000679.1:g.76563158G>A | GRCh37 |
| NC_000017.9:g.74074753G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.1375C>T MANE Select | ENSP00000374490.6:p.Arg459Cys | |
| ENST00000389840.6:c.1375C>T | ENSP00000374490.6:p.Arg459Cys | |
| ENST00000585328.5:c.1375C>T | ENSP00000465516.1:p.Arg459Cys | |
| ENST00000589793.1:n.587C>T | ||
| NM_173628.3:c.1375C>T | NP_775899.3:p.Arg459Cys | |
| XM_011525416.1:c.1375C>T | XP_011523718.1:p.Arg459Cys | |
| XM_011525417.1:c.1375C>T | XP_011523719.1:p.Arg459Cys | |
| XR_934583.1:n.1536C>T | ||
| XM_011525416.2:c.1375C>T | XP_011523718.1:p.Arg459Cys | |
| XM_024451013.1:c.1375C>T | XP_024306781.1:p.Arg459Cys | |
| XM_024451014.1:c.1375C>T | XP_024306782.1:p.Arg459Cys | |
| XR_002958080.1:n.1538C>T | ||
| XR_002958081.1:n.1542C>T | ||
| NM_173628.4:c.1375C>T MANE Select | NP_775899.3:p.Arg459Cys |