Linked Data
ClinVar Variation Id:
475419
dbSNP Id:
rs148501787
ExAC:
12:57908753 C / T
gnomAD v2:
12-57908753-C-T
gnomAD v3:
12-57514970-C-T
gnomAD v4:
12-57514970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57514970C>T , CM000674.2:g.57514970C>T | GRCh38 |
| NC_000012.11:g.57908753C>T , CM000674.1:g.57908753C>T | GRCh37 |
| NC_000012.10:g.56195020C>T | NCBI36 |
| NG_027674.1:g.10548G>A | |
| NG_034077.1:g.32018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.2116C>T MANE Select | ENSP00000262027.5:p.Arg706Cys | |
| ENST00000262027.9:c.2116C>T | ENSP00000262027.5:p.Arg706Cys | |
| ENST00000537638.6:c.*408C>T | ENSP00000446168.2:n.*408C>T | |
| ENST00000545888.6:c.*1617C>T | ENSP00000439307.2:n.*1617C>T | |
| ENST00000548202.5:n.623C>T | ||
| ENST00000548944.1:c.134-1525C>T | ENSP00000449071.1:n.134-1525C>T | |
| ENST00000551805.1:n.47C>T | ||
| ENST00000552914.5:c.184C>T | ENSP00000449787.1:p.Arg62Cys | |
| ENST00000628866.2:c.*1617C>T | ENSP00000486738.1:n.*1617C>T | |
| NM_004990.3:c.2116C>T | NP_004981.2:p.Arg706Cys | |
| XM_006719398.2:c.1414C>T | XP_006719461.1:p.Arg472Cys | |
| XM_006719398.4:c.1414C>T | XP_006719461.1:p.Arg472Cys | |
| XR_001748704.2:n.2072C>T | ||
| XR_002957327.1:n.2063C>T | ||
| NM_004990.4:c.2116C>T MANE Select | NP_004981.2:p.Arg706Cys |