gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033739 (NFE)
Genomes Max Group AF
0.00029242 (NFE)
Exomes Max Group AF
0.00033378 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63629952A>G , CM000663.2:g.63629952A>G | GRCh38 |
| NC_000001.10:g.64095623A>G , CM000663.1:g.64095623A>G | GRCh37 |
| NC_000001.9:g.63868211A>G | NCBI36 |
| NG_016966.1:g.41677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.420A>G MANE Select | ENSP00000360125.3:p.Pro140= | |
| ENST00000650546.1:c.420A>G | ENSP00000497812.1:p.Pro140= | |
| ENST00000371083.4:c.474A>G | ENSP00000360124.4:p.Pro158= | |
| ENST00000371084.7:c.420A>G | ENSP00000360125.3:p.Pro140= | |
| ENST00000540265.5:c.-172A>G | ENSP00000443449.1:n.-172A>G | |
| NM_001172818.1:c.474A>G | NP_001166289.1:p.Pro158= | |
| NM_001172819.1:c.-172A>G | NP_001166290.1:n.-172A>G | |
| NM_002633.2:c.420A>G | NP_002624.2:p.Pro140= | |
| NM_002633.3:c.420A>G MANE Select | NP_002624.2:p.Pro140= | |
| NM_001172819.2:c.-172A>G | NP_001166290.1:n.-172A>G |