gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006232 (AFR)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.0000585 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909739C>T , CM000663.2:g.173909739C>T | GRCh38 |
| NC_000001.10:g.173878877C>T , CM000663.1:g.173878877C>T | GRCh37 |
| NC_000001.9:g.172145500C>T | NCBI36 |
| NG_012462.1:g.12640G>A , LRG_577:g.12640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.966G>A MANE Select | ENSP00000356671.3:p.Lys322= | |
| ENST00000367698.3:c.966G>A | ENSP00000356671.3:p.Lys322= | |
| ENST00000487183.1:n.617G>A | ||
| ENST00000617423.4:c.559+2125G>A | ENSP00000478688.1:n.559+2125G>A | |
| NM_000488.3:c.966G>A , LRG_577t1:c.966G>A | NP_000479.1:p.Lys322= | |
| XM_005245198.2:c.822G>A | XP_005245255.1:p.Lys274= | |
| NM_001365052.1:c.822G>A | NP_001351981.1:p.Lys274= | |
| NM_000488.4:c.966G>A MANE Select | NP_000479.1:p.Lys322= | |
| NM_001365052.2:c.822G>A | NP_001351981.1:p.Lys274= | |
| NM_001386302.1:c.1089G>A | NP_001373231.1:p.Lys363= | |
| NM_001386303.1:c.1047G>A | NP_001373232.1:p.Lys349= | |
| NM_001386304.1:c.945G>A | NP_001373233.1:p.Lys315= | |
| NM_001386305.1:c.909G>A | NP_001373234.1:p.Lys303= | |
| NM_001386306.1:c.750G>A | NP_001373235.1:p.Lys250= |