Linked Data
ClinVar Variation Id:
355061
dbSNP Id:
rs17073260
ExAC:
6:112382323 C / T
gnomAD v2:
6-112382323-C-T
gnomAD v3:
6-112061120-C-T
gnomAD v4:
6-112061120-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112061120C>T , CM000668.2:g.112061120C>T | GRCh38 |
| NC_000006.11:g.112382323C>T , CM000668.1:g.112382323C>T | GRCh37 |
| NC_000006.10:g.112489016C>T | NCBI36 |
| NG_011748.1:g.12046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.178C>T MANE Select | ENSP00000357655.4:p.Arg60Cys | |
| ENST00000639360.1:c.82C>T | ENSP00000491774.1:p.Arg28Cys | |
| ENST00000230529.9:c.178C>T | ENSP00000230529.5:p.Arg60Cys | |
| ENST00000361714.5:c.178C>T | ENSP00000354734.2:p.Arg60Cys | |
| ENST00000368663.4:c.178C>T | ENSP00000357652.4:p.Arg60Cys | |
| ENST00000368664.7:c.232C>T | ENSP00000357653.3:p.Arg78Cys | |
| ENST00000368666.6:c.232C>T | ENSP00000357655.3:p.Arg78Cys | |
| ENST00000409166.5:c.-507-159C>T | ENSP00000386467.1:n.-507-159C>T | |
| ENST00000454589.5:c.178C>T | ENSP00000395928.1:p.Arg60Cys | |
| ENST00000604763.5:c.178C>T | ENSP00000473777.1:p.Arg60Cys | |
| ENST00000620524.3:n.112C>T | ||
| NM_003880.3:c.178C>T | NP_003871.1:p.Arg60Cys | |
| NM_198239.1:c.232C>T | NP_937882.1:p.Arg78Cys | |
| NR_125353.1:n.368C>T | ||
| NR_125354.1:n.288C>T | ||
| XM_011536220.1:c.178C>T | XP_011534522.1:p.Arg60Cys | |
| XM_011536221.1:c.241C>T | XP_011534523.1:p.Arg81Cys | |
| XM_011536222.1:c.316C>T | XP_011534524.1:p.Arg106Cys | |
| XM_011536222.2:c.241C>T | XP_011534524.2:p.Arg81Cys | |
| XR_001743705.1:n.716C>T | ||
| NM_003880.4:c.178C>T | NP_003871.1:p.Arg60Cys | |
| NM_198239.2:c.178C>T MANE Select | NP_937882.2:p.Arg60Cys | |
| NR_125353.2:n.432C>T | ||
| NR_125354.3:n.259C>T |