Linked Data
dbSNP Id:
rs763808149
ExAC:
12:132425954 C / G
gnomAD v2:
12-132425954-C-G
gnomAD v4:
12-131941409-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941409C>G , CM000674.2:g.131941409C>G | GRCh38 |
| NC_000012.11:g.132425954C>G , CM000674.1:g.132425954C>G | GRCh37 |
| NC_000012.10:g.130991907C>G | NCBI36 |
| NG_013039.1:g.17210C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.662C>G MANE Select | ENSP00000365837.3:p.Thr221Ser | |
| ENST00000322060.9:c.578C>G | ENSP00000324726.5:p.Thr193Ser | |
| ENST00000376649.7:c.662C>G | ENSP00000365837.3:p.Thr221Ser | |
| ENST00000443358.6:c.578C>G | ENSP00000392451.2:p.Thr193Ser | |
| ENST00000535067.5:c.358-2130C>G | ENSP00000443969.1:n.358-2130C>G | |
| ENST00000537484.1:c.587C>G | ENSP00000440179.1:p.Thr196Ser | |
| ENST00000542167.2:c.503C>G | ENSP00000438948.1:p.Thr168Ser | |
| ENST00000543754.1:n.483C>G | ||
| NM_001002019.2:c.578C>G | NP_001002019.1:p.Thr193Ser | |
| NM_001002020.2:c.578C>G | NP_001002020.1:p.Thr193Ser | |
| NM_025215.5:c.662C>G | NP_079491.2:p.Thr221Ser | |
| XM_011538768.1:c.263C>G | XP_011537070.1:p.Thr88Ser | |
| XM_011538768.3:c.263C>G | XP_011537070.1:p.Thr88Ser | |
| XR_001748872.1:n.1117C>G | ||
| NM_001002019.3:c.578C>G | NP_001002019.1:p.Thr193Ser | |
| NM_001002020.3:c.578C>G | NP_001002020.1:p.Thr193Ser | |
| NM_025215.6:c.662C>G MANE Select | NP_079491.2:p.Thr221Ser |