gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001454 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57931769A>G , CM000678.2:g.57931769A>G | GRCh38 |
| NC_000016.9:g.57965673A>G , CM000678.1:g.57965673A>G | GRCh37 |
| NC_000016.8:g.56523174A>G | NCBI36 |
| NG_016351.1:g.44348T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.1482T>C MANE Select | ENSP00000251102.8:p.Ser494= | |
| ENST00000251102.12:c.1482T>C | ENSP00000251102.8:p.Ser494= | |
| ENST00000564448.5:c.1464T>C | ENSP00000454633.1:p.Ser488= | |
| ENST00000564450.1:n.120+7661T>C | ||
| ENST00000564654.1:n.871T>C | ||
| NM_001286130.1:c.1464T>C | NP_001273059.1:p.Ser488= | |
| NM_001297.4:c.1482T>C | NP_001288.3:p.Ser494= | |
| XM_006721134.2:c.1482T>C | XP_006721197.1:p.Ser494= | |
| XM_011522870.1:c.333T>C | XP_011521172.1:p.Ser111= | |
| XM_011522870.2:c.333T>C | XP_011521172.1:p.Ser111= | |
| NM_001286130.2:c.1464T>C | NP_001273059.1:p.Ser488= | |
| NM_001297.5:c.1482T>C MANE Select | NP_001288.3:p.Ser494= |