Linked Data
ClinVar Variation Id:
3016559
ClinVar RCV Id:
RCV003878694
dbSNP Id:
rs767849841
gnomAD v4:
17-7223983-C-T
COSMIC:
COSM983830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223983C>T , CM000679.2:g.7223983C>T | GRCh38 |
| NC_000017.10:g.7127302C>T , CM000679.1:g.7127302C>T | GRCh37 |
| NC_000017.9:g.7068026C>T | NCBI36 |
| NG_007975.1:g.9150C>T | |
| NG_008391.2:g.1068G>A | |
| NG_033038.1:g.15562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1348C>T MANE Select | ENSP00000349297.5:p.Arg450Cys | |
| ENST00000322910.9:c.*1303C>T | ENSP00000325395.5:n.*1303C>T | |
| ENST00000350303.9:c.1282C>T | ENSP00000344152.5:p.Arg428Cys | |
| ENST00000356839.9:c.1348C>T | ENSP00000349297.5:p.Arg450Cys | |
| ENST00000542255.6:c.206C>T | ||
| ENST00000543245.6:c.1417C>T | ENSP00000438689.2:p.Arg473Cys | |
| ENST00000578711.1:n.479C>T | ||
| ENST00000579425.5:n.464C>T | ||
| ENST00000579546.1:c.185C>T | ||
| ENST00000579894.5:n.59C>T | ||
| ENST00000583074.5:n.67C>T | ||
| ENST00000583850.5:n.123C>T | ||
| ENST00000583858.5:c.377C>T | ||
| ENST00000585203.6:n.539C>T | ||
| NM_000018.3:c.1348C>T | NP_000009.1:p.Arg450Cys | |
| NM_001033859.2:c.1282C>T | NP_001029031.1:p.Arg428Cys | |
| NM_001270447.1:c.1417C>T | NP_001257376.1:p.Arg473Cys | |
| NM_001270448.1:c.1120C>T | NP_001257377.1:p.Arg374Cys | |
| XM_006721516.2:c.1348C>T | XP_006721579.2:p.Arg450Cys | |
| XM_011523829.1:c.1348C>T | XP_011522131.1:p.Arg450Cys | |
| XM_011523830.1:c.1348C>T | XP_011522132.1:p.Arg450Cys | |
| XR_934021.1:n.1455C>T | ||
| XR_934022.1:n.1455C>T | ||
| XR_934023.1:n.1455C>T | ||
| XM_006721516.3:c.1348C>T | XP_006721579.2:p.Arg450Cys | |
| XM_011523829.2:c.1348C>T | XP_011522131.1:p.Arg450Cys | |
| XM_011523830.2:c.1348C>T | XP_011522132.1:p.Arg450Cys | |
| XM_024450741.1:c.1348C>T | XP_024306509.1:p.Arg450Cys | |
| XR_934021.2:n.1407C>T | ||
| XR_934022.2:n.1407C>T | ||
| XR_934023.2:n.1407C>T | ||
| NM_000018.4:c.1348C>T MANE Select | NP_000009.1:p.Arg450Cys | |
| NM_001033859.3:c.1282C>T | NP_001029031.1:p.Arg428Cys | |
| NM_001270447.2:c.1417C>T | NP_001257376.1:p.Arg473Cys | |
| NM_001270448.2:c.1120C>T | NP_001257377.1:p.Arg374Cys |