gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001774 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572986G>A , CM000673.2:g.2572986G>A | GRCh38 |
| NC_000011.9:g.2594216G>A , CM000673.1:g.2594216G>A | GRCh37 |
| NC_000011.8:g.2550792G>A | NCBI36 |
| NG_008935.1:g.132996G>A , LRG_287:g.132996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.660G>A | ENSP00000434560.2:p.Val220= | |
| ENST00000646564.2:c.478-10449G>A | ENSP00000495806.2:n.478-10449G>A | |
| ENST00000155840.12:c.921G>A MANE Select | ENSP00000155840.2:p.Val307= | |
| ENST00000335475.6:c.540G>A | ENSP00000334497.5:p.Val180= | |
| ENST00000646564.1:c.124-10449G>A | ENSP00000495806.1:n.124-10449G>A | |
| ENST00000155840.9:c.921G>A | ENSP00000155840.2:p.Val307= | |
| ENST00000335475.5:c.540G>A | ENSP00000334497.5:p.Val180= | |
| NM_000218.2:c.921G>A , LRG_287t1:c.921G>A | NP_000209.2:p.Val307= | |
| NM_181798.1:c.540G>A , LRG_287t2:c.540G>A | NP_861463.1:p.Val180= | |
| NM_000218.3:c.921G>A MANE Select | NP_000209.2:p.Val307= |