gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43846309C>G , CM000664.2:g.43846309C>G | GRCh38 |
| NC_000002.11:g.44073448C>G , CM000664.1:g.44073448C>G | GRCh37 |
| NC_000002.10:g.43926952C>G | NCBI36 |
| NG_008884.1:g.12346C>G | |
| NG_008884.2:g.19368C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.320C>G MANE Select | ENSP00000272286.2:p.Ser107Ter | |
| ENST00000643284.1:n.777C>G | ||
| ENST00000644611.1:c.332C>G | ENSP00000495423.1:p.Ser111Ter | |
| ENST00000272286.2:c.320C>G | ENSP00000272286.2:p.Ser107Ter | |
| NM_022437.2:c.320C>G | NP_071882.1:p.Ser107Ter | |
| XM_005264483.2:c.320C>G | XP_005264540.1:p.Ser107Ter | |
| XM_011533029.1:c.332C>G | XP_011531331.1:p.Ser111Ter | |
| XM_011533030.1:c.332C>G | XP_011531332.1:p.Ser111Ter | |
| XM_011533031.1:c.104C>G | XP_011531333.1:p.Ser35Ter | |
| XR_939707.1:n.822C>G | ||
| NM_001357321.1:c.320C>G | NP_001344250.1:p.Ser107Ter | |
| XM_011533029.2:c.332C>G | XP_011531331.1:p.Ser111Ter | |
| XM_011533030.2:c.332C>G | XP_011531332.1:p.Ser111Ter | |
| XR_001738891.1:n.836C>G | ||
| XR_939707.2:n.836C>G | ||
| NM_022437.3:c.320C>G MANE Select | NP_071882.1:p.Ser107Ter | |
| NM_001357321.2:c.320C>G | NP_001344250.1:p.Ser107Ter |