ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018819 (EAS)
Genomes Max Group AF
0.00038053 (EAS)
Exomes Max Group AF
0.00010364 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131930048T>C , CM000674.2:g.131930048T>C | GRCh38 |
| NC_000012.11:g.132414593T>C , CM000674.1:g.132414593T>C | GRCh37 |
| NC_000012.10:g.130980546T>C | NCBI36 |
| NG_013039.1:g.5849T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.216T>C MANE Select | ENSP00000365837.3:p.Gly72= | |
| ENST00000322060.9:c.132T>C | ENSP00000324726.5:p.Gly44= | |
| ENST00000376649.7:c.216T>C | ENSP00000365837.3:p.Gly72= | |
| ENST00000443358.6:c.132T>C | ENSP00000392451.2:p.Gly44= | |
| ENST00000456665.6:c.132T>C | ENSP00000409705.2:p.Gly44= | |
| ENST00000535067.5:c.132T>C | ENSP00000443969.1:p.Gly44= | |
| ENST00000537484.1:c.132T>C | ENSP00000440179.1:p.Gly44= | |
| ENST00000538037.5:c.132T>C | ENSP00000440326.2:p.Gly44= | |
| ENST00000542167.2:c.-517+536T>C | ENSP00000438948.1:n.-517+536T>C | |
| ENST00000544213.5:c.216T>C | ENSP00000445819.1:p.Gly72= | |
| ENST00000544662.1:n.243T>C | ||
| NM_001002019.2:c.132T>C | NP_001002019.1:p.Gly44= | |
| NM_001002020.2:c.132T>C | NP_001002020.1:p.Gly44= | |
| NM_025215.5:c.216T>C | NP_079491.2:p.Gly72= | |
| XM_011538769.1:c.216T>C | XP_011537071.1:p.Gly72= | |
| XR_944737.1:n.671T>C | ||
| XM_011538769.2:c.216T>C | XP_011537071.1:p.Gly72= | |
| XR_001748872.1:n.671T>C | ||
| NM_001002019.3:c.132T>C | NP_001002019.1:p.Gly44= | |
| NM_001002020.3:c.132T>C | NP_001002020.1:p.Gly44= | |
| NM_025215.6:c.216T>C MANE Select | NP_079491.2:p.Gly72= |