ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50355962C>T , CM000679.2:g.50355962C>T | GRCh38 |
| NC_000017.10:g.48433323C>T , CM000679.1:g.48433323C>T | GRCh37 |
| NC_000017.9:g.45788322C>T | NCBI36 |
| NG_012175.1:g.14931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000017003.7:c.1270C>T MANE Select | ENSP00000017003.2:p.Arg424Cys | |
| ENST00000017003.6:c.1270C>T | ENSP00000017003.2:p.Arg424Cys | |
| ENST00000376550.7:c.1270C>T | ENSP00000365733.3:p.Arg424Cys | |
| ENST00000507602.5:c.1270C>T | ENSP00000426501.1:p.Arg424Cys | |
| NM_022167.3:c.1270C>T | NP_071450.2:p.Arg424Cys | |
| NR_110010.1:n.1379C>T | ||
| XM_005257572.3:c.1174C>T | XP_005257629.1:p.Arg392Cys | |
| XM_011525114.1:c.679C>T | XP_011523416.1:p.Arg227Cys | |
| XM_005257572.4:c.1174C>T | XP_005257629.1:p.Arg392Cys | |
| NM_022167.4:c.1270C>T MANE Select | NP_071450.2:p.Arg424Cys | |
| NR_110010.2:n.1285C>T |