Linked Data
ClinVar Variation Id:
3191759
ClinVar RCV Id:
RCV004478629
dbSNP Id:
rs753242822
ExAC:
2:98355875 C / T
gnomAD v2:
2-98355875-C-T
gnomAD v3:
2-97739412-C-T
gnomAD v4:
2-97739412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97739412C>T , CM000664.2:g.97739412C>T | GRCh38 |
| NC_000002.11:g.98355875C>T , CM000664.1:g.98355875C>T | GRCh37 |
| NC_000002.10:g.97722307C>T | NCBI36 |
| NG_007727.1:g.30845C>T , LRG_126:g.30845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.1774C>T | ENSP00000513759.1:p.Arg592Cys | |
| ENST00000698509.1:n.1914C>T | ||
| ENST00000264972.10:c.1774C>T MANE Select | ENSP00000264972.5:p.Arg592Cys | |
| ENST00000264972.9:c.1774C>T | ENSP00000264972.5:p.Arg592Cys | |
| ENST00000451498.2:c.853C>T | ENSP00000400475.2:p.Arg285Cys | |
| ENST00000463643.5:n.1635C>T | ||
| ENST00000487283.5:n.2826C>T | ||
| NM_001079.3:c.1774C>T , LRG_126t1:c.1774C>T | NP_001070.2:p.Arg592Cys | |
| NM_207519.1:c.853C>T | NP_997402.1:p.Arg285Cys | |
| XM_005264015.3:c.1756C>T | XP_005264072.1:p.Arg586Cys | |
| XM_011511783.1:c.1736+1305C>T | XP_011510085.1:n.1736+1305C>T | |
| XR_923018.1:n.1938+1305C>T | ||
| XR_923019.1:n.1938+1305C>T | ||
| XR_923020.1:n.2185C>T | ||
| XM_017004867.1:c.2143C>T | XP_016860356.1:p.Arg715Cys | |
| XM_017004868.1:c.2125C>T | XP_016860357.1:p.Arg709Cys | |
| XM_017004869.1:c.2105+1305C>T | XP_016860358.1:n.2105+1305C>T | |
| XR_001738925.1:n.3344+1305C>T | ||
| XR_001738926.1:n.3344+1305C>T | ||
| XR_001738927.1:n.3591C>T | ||
| NM_001079.4:c.1774C>T MANE Select | NP_001070.2:p.Arg592Cys | |
| NM_001378594.1:c.1774C>T | NP_001365523.1:p.Arg592Cys | |
| NM_207519.2:c.853C>T | NP_997402.1:p.Arg285Cys |