Linked Data
ClinVar Variation Id:
2350535
ClinVar RCV Id:
RCV002956998
dbSNP Id:
rs377540343
ExAC:
17:79213191 C / T
gnomAD v2:
17-79213191-C-T
gnomAD v3:
17-81239391-C-T
gnomAD v4:
17-81239391-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81239391C>T , CM000679.2:g.81239391C>T | GRCh38 |
| NC_000017.10:g.79213191C>T , CM000679.1:g.79213191C>T | GRCh37 |
| NC_000017.9:g.76827786C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431388.3:c.28C>T MANE Select | ENSP00000400184.2:p.Arg10Cys | |
| ENST00000431388.2:c.28C>T | ENSP00000400184.2:p.Arg10Cys | |
| ENST00000573090.1:n.81C>T | ||
| ENST00000577158.2:n.87C>T | ||
| NM_001086521.1:c.28C>T | NP_001079990.1:p.Arg10Cys | |
| NM_001353402.1:c.28C>T | NP_001340331.1:p.Arg10Cys | |
| NM_001353403.1:c.-396C>T | NP_001340332.1:n.-396C>T | |
| NM_001086521.2:c.28C>T MANE Select | NP_001079990.1:p.Arg10Cys |