Linked Data
ClinVar Variation Id:
6382
ClinVar RCV Id:
RCV000006754
dbSNP Id:
rs121908902
PubMed:
PMID:10471507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112061174T>C , CM000668.2:g.112061174T>C | GRCh38 |
| NC_000006.11:g.112382377T>C , CM000668.1:g.112382377T>C | GRCh37 |
| NC_000006.10:g.112489070T>C | NCBI36 |
| NG_011748.1:g.12100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.232T>C MANE Select | ENSP00000357655.4:p.Cys78Arg | |
| ENST00000639360.1:c.136T>C | ENSP00000491774.1:p.Cys46Arg | |
| ENST00000230529.9:c.232T>C | ENSP00000230529.5:p.Cys78Arg | |
| ENST00000361714.5:c.232T>C | ENSP00000354734.2:p.Cys78Arg | |
| ENST00000368663.4:c.232T>C | ENSP00000357652.4:p.Cys78Arg | |
| ENST00000368664.7:c.286T>C | ENSP00000357653.3:p.Cys96Arg | |
| ENST00000368666.6:c.286T>C | ENSP00000357655.3:p.Cys96Arg | |
| ENST00000409166.5:c.-507-105T>C | ENSP00000386467.1:n.-507-105T>C | |
| ENST00000454589.5:c.232T>C | ENSP00000395928.1:p.Cys78Arg | |
| ENST00000604763.5:c.232T>C | ENSP00000473777.1:p.Cys78Arg | |
| ENST00000620524.3:n.166T>C | ||
| NM_003880.3:c.232T>C | NP_003871.1:p.Cys78Arg | |
| NM_198239.1:c.286T>C | NP_937882.1:p.Cys96Arg | |
| NR_125353.1:n.422T>C | ||
| NR_125354.1:n.342T>C | ||
| XM_011536220.1:c.232T>C | XP_011534522.1:p.Cys78Arg | |
| XM_011536221.1:c.295T>C | XP_011534523.1:p.Cys99Arg | |
| XM_011536222.1:c.370T>C | XP_011534524.1:p.Cys124Arg | |
| XM_011536222.2:c.295T>C | XP_011534524.2:p.Cys99Arg | |
| XR_001743705.1:n.770T>C | ||
| NM_003880.4:c.232T>C | NP_003871.1:p.Cys78Arg | |
| NM_198239.2:c.232T>C MANE Select | NP_937882.2:p.Cys78Arg | |
| NR_125353.2:n.486T>C | ||
| NR_125354.3:n.313T>C |