Linked Data
ClinVar Variation Id:
435415
ClinVar RCV Id:
RCV000502357
dbSNP Id:
rs764552042
ExAC:
5:74016556 C / T
gnomAD v2:
5-74016556-C-T
gnomAD v4:
5-74720731-C-T
COSMIC:
COSM4977910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74720731C>T , CM000667.2:g.74720731C>T | GRCh38 |
| NC_000005.9:g.74016556C>T , CM000667.1:g.74016556C>T | GRCh37 |
| NC_000005.8:g.74052312C>T | NCBI36 |
| NG_009770.1:g.40588C>T | |
| NG_011531.1:g.51487G>A | |
| NG_009770.2:g.85709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.1597C>T MANE Select | ENSP00000261416.7:p.Arg533Cys | |
| ENST00000261416.11:c.1597C>T | ENSP00000261416.7:p.Arg533Cys | |
| ENST00000503312.5:c.473C>T | ||
| ENST00000504459.5:n.794C>T | ||
| ENST00000505859.1:c.120C>T | ||
| ENST00000509579.1:c.34C>T | ENSP00000424939.1:p.Arg12Cys | |
| ENST00000511181.5:c.922C>T | ENSP00000426285.1:p.Arg308Cys | |
| ENST00000513336.5:c.533C>T | ||
| ENST00000513539.1:n.316C>T | ||
| NM_000521.3:c.1597C>T | NP_000512.1:p.Arg533Cys | |
| NM_001292004.1:c.922C>T | NP_001278933.1:p.Arg308Cys | |
| NM_000521.4:c.1597C>T MANE Select | NP_000512.2:p.Arg533Cys | |
| NM_001292004.2:c.922C>T | NP_001278933.1:p.Arg308Cys |