Linked Data
ClinVar Variation Id:
763
ClinVar RCV Id:
RCV002251849
dbSNP Id:
rs118204046
ExAC:
2:150426633 T / C
gnomAD v2:
2-150426633-T-C
gnomAD v3:
2-149570119-T-C
gnomAD v4:
2-149570119-T-C
PubMed:
PMID:18385497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570119T>C , CM000664.2:g.149570119T>C | GRCh38 |
| NC_000002.11:g.150426633T>C , CM000664.1:g.150426633T>C | GRCh37 |
| NC_000002.10:g.150134879T>C | NCBI36 |
| NG_009189.1:g.22698A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303319.10:c.746A>G MANE Select | ENSP00000301920.5:p.Tyr249Cys | |
| ENST00000303319.9:c.746A>G | ENSP00000301920.5:p.Tyr249Cys | |
| ENST00000422782.2:c.848A>G | ENSP00000408331.2:p.Tyr283Cys | |
| ENST00000428879.5:c.746A>G | ENSP00000389060.1:p.Tyr249Cys | |
| NM_015702.2:c.746A>G | NP_056517.1:p.Tyr249Cys | |
| NM_015702.3:c.746A>G MANE Select | NP_056517.1:p.Tyr249Cys |