Linked Data
ClinVar Variation Id:
1952930
ClinVar RCV Id:
RCV002672089
dbSNP Id:
rs200946638
ExAC:
3:129247629 G / C
gnomAD v2:
3-129247629-G-C
gnomAD v4:
3-129528786-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528786G>C , CM000665.2:g.129528786G>C | GRCh38 |
| NC_000003.11:g.129247629G>C , CM000665.1:g.129247629G>C | GRCh37 |
| NC_000003.10:g.130730319G>C | NCBI36 |
| NG_009115.1:g.5148G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.53G>C MANE Select | ENSP00000296271.3:p.Gly18Ala | |
| ENST00000296271.3:c.53G>C | ENSP00000296271.3:p.Gly18Ala | |
| NM_000539.3:c.53G>C MANE Select | NP_000530.1:p.Gly18Ala |