Linked Data
ClinVar Variation Id:
138858
dbSNP Id:
rs142954643
ExAC:
12:132416780 C / A
gnomAD v2:
12-132416780-C-A
gnomAD v3:
12-131932235-C-A
gnomAD v4:
12-131932235-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131932235C>A , CM000674.2:g.131932235C>A | GRCh38 |
| NC_000012.11:g.132416780C>A , CM000674.1:g.132416780C>A | GRCh37 |
| NC_000012.10:g.130982733C>A | NCBI36 |
| NG_013039.1:g.8036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.364C>A MANE Select | ENSP00000365837.3:p.Arg122= | |
| ENST00000322060.9:c.280C>A | ENSP00000324726.5:p.Arg94= | |
| ENST00000376649.7:c.364C>A | ENSP00000365837.3:p.Arg122= | |
| ENST00000443358.6:c.280C>A | ENSP00000392451.2:p.Arg94= | |
| ENST00000456665.6:c.280C>A | ENSP00000409705.2:p.Arg94= | |
| ENST00000535067.5:c.280C>A | ENSP00000443969.1:p.Arg94= | |
| ENST00000537484.1:c.280C>A | ENSP00000440179.1:p.Arg94= | |
| ENST00000538037.5:c.280C>A | ENSP00000440326.2:p.Arg94= | |
| ENST00000542167.2:c.205C>A | ENSP00000438948.1:p.Arg69= | |
| ENST00000544213.5:c.364C>A | ENSP00000445819.1:p.Arg122= | |
| ENST00000544662.1:n.391C>A | ||
| NM_001002019.2:c.280C>A | NP_001002019.1:p.Arg94= | |
| NM_001002020.2:c.280C>A | NP_001002020.1:p.Arg94= | |
| NM_025215.5:c.364C>A | NP_079491.2:p.Arg122= | |
| XM_011538768.1:c.-36C>A | XP_011537070.1:n.-36C>A | |
| XM_011538769.1:c.364C>A | XP_011537071.1:p.Arg122= | |
| XR_944737.1:n.819C>A | ||
| XM_011538768.3:c.-36C>A | XP_011537070.1:n.-36C>A | |
| XM_011538769.2:c.364C>A | XP_011537071.1:p.Arg122= | |
| XR_001748872.1:n.819C>A | ||
| NM_001002019.3:c.280C>A | NP_001002019.1:p.Arg94= | |
| NM_001002020.3:c.280C>A | NP_001002020.1:p.Arg94= | |
| NM_025215.6:c.364C>A MANE Select | NP_079491.2:p.Arg122= |