Linked Data
ClinVar Variation Id:
307707
ClinVar RCV Id:
RCV000307976
dbSNP Id:
rs886049093
gnomAD v2:
12-132426427-G-A
gnomAD v3:
12-131941882-G-A
gnomAD v4:
12-131941882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941882G>A , CM000674.2:g.131941882G>A | GRCh38 |
| NC_000012.11:g.132426427G>A , CM000674.1:g.132426427G>A | GRCh37 |
| NC_000012.10:g.130992380G>A | NCBI36 |
| NG_013039.1:g.17683G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376649.8:c.1135G>A MANE Select | ENSP00000365837.3:p.Gly379Ser | |
| ENST00000322060.9:c.1051G>A | ENSP00000324726.5:p.Gly351Ser | |
| ENST00000376649.7:c.1135G>A | ENSP00000365837.3:p.Gly379Ser | |
| ENST00000443358.6:c.1051G>A | ENSP00000392451.2:p.Gly351Ser | |
| ENST00000535067.5:c.358-1657G>A | ENSP00000443969.1:n.358-1657G>A | |
| ENST00000542167.2:c.976G>A | ENSP00000438948.1:p.Gly326Ser | |
| ENST00000543754.1:n.956G>A | ||
| NM_001002019.2:c.1051G>A | NP_001002019.1:p.Gly351Ser | |
| NM_001002020.2:c.1051G>A | NP_001002020.1:p.Gly351Ser | |
| NM_025215.5:c.1135G>A | NP_079491.2:p.Gly379Ser | |
| XM_011538768.1:c.736G>A | XP_011537070.1:p.Gly246Ser | |
| XM_011538768.3:c.736G>A | XP_011537070.1:p.Gly246Ser | |
| XR_001748872.1:n.1590G>A | ||
| NM_001002019.3:c.1051G>A | NP_001002019.1:p.Gly351Ser | |
| NM_001002020.3:c.1051G>A | NP_001002020.1:p.Gly351Ser | |
| NM_025215.6:c.1135G>A MANE Select | NP_079491.2:p.Gly379Ser |