Linked Data
ClinVar Variation Id:
265350
ClinVar RCV Id:
RCV000256155
RCV000490628
RCV000475848
RCV000622320
RCV001003612
RCV001775107
RCV003401217
dbSNP Id:
rs886039494
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336762C>T , CM000678.2:g.56336762C>T | GRCh38 |
| NC_000016.9:g.56370674C>T , CM000678.1:g.56370674C>T | GRCh37 |
| NC_000016.8:g.54928175C>T | NCBI36 |
| NG_042800.1:g.150424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.625C>T | ENSP00000262494.7:p.Arg209Cys | |
| ENST00000262493.12:c.625C>T MANE Select | ENSP00000262493.6:p.Arg209Cys | |
| ENST00000262494.12:c.625C>T | ENSP00000262494.7:p.Arg209Cys | |
| ENST00000562316.6:c.292C>T | ENSP00000457238.2:p.Arg98Cys | |
| ENST00000568375.2:c.17C>T | ||
| ENST00000638185.1:n.840C>T | ||
| ENST00000638210.1:n.925C>T | ||
| ENST00000638705.1:c.625C>T | ENSP00000491223.1:p.Arg209Cys | |
| ENST00000638836.1:n.535C>T | ||
| ENST00000639055.1:n.1346C>T | ||
| ENST00000639251.1:n.526C>T | ||
| ENST00000639268.1:c.260C>T | ||
| ENST00000639341.1:c.150C>T | ||
| ENST00000639770.1:c.663C>T | ENSP00000491999.1:n.663C>T | |
| ENST00000640390.1:n.555C>T | ||
| ENST00000640560.1:n.401C>T | ||
| ENST00000640893.1:c.*23C>T | ENSP00000492677.1:n.*23C>T | |
| ENST00000262493.10:c.625C>T | ENSP00000262493.6:p.Arg209Cys | |
| ENST00000262494.11:c.625C>T | ENSP00000262494.7:p.Arg209Cys | |
| ENST00000568375.1:n.17C>T | ||
| NM_020988.2:c.625C>T | NP_066268.1:p.Arg209Cys | |
| NM_138736.2:c.625C>T | NP_620073.2:p.Arg209Cys | |
| XM_011523003.1:c.499C>T | XP_011521305.1:p.Arg167Cys | |
| XM_011523003.3:c.499C>T | XP_011521305.1:p.Arg167Cys | |
| NM_020988.3:c.625C>T MANE Select | NP_066268.1:p.Arg209Cys | |
| NM_138736.3:c.625C>T | NP_620073.2:p.Arg209Cys |