Linked Data
ClinVar Variation Id:
2349868
ClinVar RCV Id:
RCV004191825
dbSNP Id:
rs202220571
ExAC:
3:138461564 G / A
gnomAD v2:
3-138461564-G-A
gnomAD v3:
3-138742722-G-A
gnomAD v4:
3-138742722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138742722G>A , CM000665.2:g.138742722G>A | GRCh38 |
| NC_000003.11:g.138461564G>A , CM000665.1:g.138461564G>A | GRCh37 |
| NC_000003.10:g.139944254G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674063.1:c.457C>T MANE Select | ENSP00000501150.1:p.Arg153Cys | |
| ENST00000289153.6:c.457C>T | ENSP00000289153.2:p.Arg153Cys | |
| ENST00000462294.1:c.60C>T | ||
| ENST00000462898.5:c.*26C>T | ENSP00000420108.1:n.*26C>T | |
| ENST00000477593.5:c.457C>T | ENSP00000418143.1:p.Arg153Cys | |
| NM_006219.2:c.457C>T | NP_006210.1:p.Arg153Cys | |
| XM_005247530.2:c.457C>T | XP_005247587.1:p.Arg153Cys | |
| XM_006713659.2:c.457C>T | XP_006713722.1:p.Arg153Cys | |
| XM_011512895.1:c.457C>T | XP_011511197.1:p.Arg153Cys | |
| XM_011512896.1:c.4C>T | XP_011511198.1:p.Arg2Cys | |
| XM_006713659.3:c.457C>T | XP_006713722.1:p.Arg153Cys | |
| XM_011512895.2:c.457C>T | XP_011511197.1:p.Arg153Cys | |
| XM_017006619.1:c.457C>T | XP_016862108.1:p.Arg153Cys | |
| XM_017006621.2:c.-837C>T | XP_016862110.1:n.-837C>T | |
| XM_024453596.1:c.286C>T | XP_024309364.1:p.Arg96Cys | |
| XM_024453597.1:c.-837C>T | XP_024309365.1:n.-837C>T | |
| XR_002959542.1:n.302C>T | ||
| NM_006219.3:c.457C>T MANE Select | NP_006210.1:p.Arg153Cys |