Linked Data
ClinVar Variation Id:
217254
ClinVar RCV Id:
RCV000201167
dbSNP Id:
rs863225041
PubMed:
PMID:24129431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.95114733T>C , CM000666.2:g.95114733T>C | GRCh38 |
| NC_000004.11:g.96035884T>C , CM000666.1:g.96035884T>C | GRCh37 |
| NC_000004.10:g.96254907T>C | NCBI36 |
| NG_009245.1:g.361757T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440890.7:c.247T>C | ENSP00000401907.2:p.Cys83Arg | |
| ENST00000502683.6:n.368T>C | ||
| ENST00000509540.6:c.157T>C | ENSP00000421671.1:p.Cys53Arg | |
| ENST00000515059.6:c.157T>C MANE Select | ENSP00000426617.1:p.Cys53Arg | |
| ENST00000672698.1:c.157T>C | ENSP00000500035.1:p.Cys53Arg | |
| ENST00000264568.8:c.157T>C | ENSP00000264568.4:p.Cys53Arg | |
| ENST00000394931.1:c.157T>C | ENSP00000378389.1:p.Cys53Arg | |
| ENST00000440890.6:c.247T>C | ENSP00000401907.2:p.Cys83Arg | |
| ENST00000502683.5:c.157T>C | ENSP00000424693.1:p.Cys53Arg | |
| ENST00000506363.5:c.157T>C | ENSP00000421144.1:p.Cys53Arg | |
| ENST00000509540.5:c.157T>C | ENSP00000421671.1:p.Cys53Arg | |
| ENST00000512312.5:c.157T>C | ENSP00000425444.1:p.Cys53Arg | |
| ENST00000515059.5:c.157T>C | ENSP00000426617.1:p.Cys53Arg | |
| NM_001203.2:c.157T>C | NP_001194.1:p.Cys53Arg | |
| NM_001256792.1:c.157T>C | NP_001243721.1:p.Cys53Arg | |
| NM_001256793.1:c.247T>C | NP_001243722.1:p.Cys83Arg | |
| NM_001256794.1:c.157T>C | NP_001243723.1:p.Cys53Arg | |
| XM_011532201.1:c.157T>C | XP_011530503.1:p.Cys53Arg | |
| XM_011532202.1:c.157T>C | XP_011530504.1:p.Cys53Arg | |
| XM_011532201.2:c.157T>C | XP_011530503.1:p.Cys53Arg | |
| XM_017008558.1:c.157T>C | XP_016864047.1:p.Cys53Arg | |
| XM_017008559.1:c.157T>C | XP_016864048.1:p.Cys53Arg | |
| XM_017008560.1:c.157T>C | XP_016864049.1:p.Cys53Arg | |
| XM_017008561.1:c.157T>C | XP_016864050.1:p.Cys53Arg | |
| NM_001203.3:c.157T>C MANE Select | NP_001194.1:p.Cys53Arg | |
| NM_001256793.2:c.247T>C | NP_001243722.1:p.Cys83Arg | |
| NM_001256792.2:c.157T>C | NP_001243721.1:p.Cys53Arg |