Linked Data
ClinVar Variation Id:
10978
ClinVar RCV Id:
RCV002496328
dbSNP Id:
rs132630327
ExAC:
X:30327166 C / G
gnomAD v2:
X-30327166-C-G
gnomAD v3:
X-30309049-C-G
gnomAD v4:
X-30309049-C-G
PubMed:
PMID:17164309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30309049C>G , CM000685.2:g.30309049C>G | GRCh38 |
| NC_000023.10:g.30327166C>G , CM000685.1:g.30327166C>G | GRCh37 |
| NC_000023.9:g.30237087C>G | NCBI36 |
| NG_009814.1:g.5330G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.315G>C MANE Select | ENSP00000368253.4:p.Trp105Cys | |
| ENST00000378970.4:c.315G>C | ENSP00000368253.4:p.Trp105Cys | |
| NM_000475.4:c.315G>C | NP_000466.2:p.Trp105Cys | |
| NM_000475.5:c.315G>C MANE Select | NP_000466.2:p.Trp105Cys |