Linked Data
ClinVar Variation Id:
216962
ClinVar RCV Id:
RCV000199053
dbSNP Id:
rs863224895
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118488623T>C , CM000673.2:g.118488623T>C | GRCh38 |
| NC_000011.9:g.118359338T>C , CM000673.1:g.118359338T>C | GRCh37 |
| NC_000011.8:g.117864548T>C | NCBI36 |
| NG_027813.1:g.57134T>C , LRG_613:g.57134T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531904.7:c.4441T>C | ENSP00000432391.3:p.Cys1481Arg | |
| ENST00000710560.1:c.4441T>C | ENSP00000518343.1:p.Cys1481Arg | |
| ENST00000420751.4:c.253T>C | ENSP00000510776.1:p.Cys85Arg | |
| ENST00000685498.1:c.121T>C | ENSP00000509293.1:p.Cys41Arg | |
| ENST00000691053.1:c.4342T>C | ENSP00000509168.1:p.Cys1448Arg | |
| ENST00000389506.10:c.4342T>C | ENSP00000374157.5:p.Cys1448Arg | |
| ENST00000534358.8:c.4342T>C MANE Select | ENSP00000436786.2:p.Cys1448Arg | |
| ENST00000649699.1:c.4228T>C | ENSP00000496927.1:p.Cys1410Arg | |
| ENST00000389506.9:c.4342T>C | ENSP00000374157.5:p.Cys1448Arg | |
| ENST00000392873.3:c.478T>C | ENSP00000376612.3:p.Cys160Arg | |
| ENST00000534358.5:c.4342T>C | ENSP00000436786.1:p.Cys1448Arg | |
| NM_001197104.1:c.4342T>C , LRG_613t1:c.4342T>C | NP_001184033.1:p.Cys1448Arg | |
| NM_005933.3:c.4342T>C | NP_005924.2:p.Cys1448Arg | |
| XM_006718839.2:c.1825T>C | XP_006718902.2:p.Cys609Arg | |
| XM_011542829.1:c.4441T>C | XP_011541131.1:p.Cys1481Arg | |
| XM_011542830.1:c.4441T>C | XP_011541132.1:p.Cys1481Arg | |
| XM_011542831.1:c.4441T>C | XP_011541133.1:p.Cys1481Arg | |
| XM_011542832.1:c.2248T>C | XP_011541134.1:p.Cys750Arg | |
| XM_011542833.1:c.1924T>C | XP_011541135.1:p.Cys642Arg | |
| XM_006718839.3:c.1825T>C | XP_006718902.2:p.Cys609Arg | |
| XM_011542829.2:c.4441T>C | XP_011541131.1:p.Cys1481Arg | |
| XM_011542830.2:c.4441T>C | XP_011541132.1:p.Cys1481Arg | |
| XM_011542831.2:c.4441T>C | XP_011541133.1:p.Cys1481Arg | |
| XM_011542833.2:c.1924T>C | XP_011541135.1:p.Cys642Arg | |
| NM_001197104.2:c.4342T>C MANE Select | NP_001184033.1:p.Cys1448Arg | |
| NM_005933.4:c.4342T>C | NP_005924.2:p.Cys1448Arg |