gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000492 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150261A>G , CM000665.2:g.10150261A>G | GRCh38 |
| NC_000003.11:g.10191945A>G , CM000665.1:g.10191945A>G | GRCh37 |
| NC_000003.10:g.10166945A>G | NCBI36 |
| NG_008212.3:g.13627A>G , LRG_322:g.13627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*615A>G | ENSP00000512434.1:n.*615A>G | |
| ENST00000696143.1:c.1074A>G | ENSP00000512435.1:n.1074A>G | |
| ENST00000696153.1:c.*296A>G | ENSP00000512444.1:n.*296A>G | |
| ENST00000256474.3:c.*296A>G MANE Select | ENSP00000256474.3:n.*296A>G | |
| ENST00000256474.2:c.*296A>G | ENSP00000256474.2:n.*296A>G | |
| ENST00000345392.2:c.*296A>G | ENSP00000344757.2:n.*296A>G | |
| NM_000551.3:c.*296A>G , LRG_322t1:c.*296A>G | NP_000542.1:n.*296A>G | |
| NM_198156.2:c.*296A>G | NP_937799.1:n.*296A>G | |
| NM_001354723.1:c.*492A>G | NP_001341652.1:n.*492A>G | |
| NM_000551.4:c.*296A>G MANE Select | NP_000542.1:n.*296A>G | |
| NM_001354723.2:c.*492A>G | NP_001341652.1:n.*492A>G | |
| NM_198156.3:c.*296A>G | NP_937799.1:n.*296A>G |