gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004347 (EAS)
Exomes Max Group AF
0.00004908 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7550598G>A , CM000681.2:g.7550598G>A | GRCh38 |
| NC_000019.9:g.7615484G>A , CM000681.1:g.7615484G>A | GRCh37 |
| NC_000019.8:g.7521484G>A | NCBI36 |
| NG_013374.1:g.21447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.2028G>A MANE Select | ENSP00000473211.1:p.Lys676= | |
| ENST00000221249.10:c.1911G>A | ENSP00000221249.5:p.Lys637= | |
| ENST00000414982.7:c.2055G>A | ENSP00000407509.2:p.Lys685= | |
| ENST00000450331.7:c.1911G>A | ENSP00000394348.2:p.Lys637= | |
| ENST00000545201.6:c.1833G>A | ENSP00000443323.1:p.Lys611= | |
| ENST00000594864.1:n.486G>A | ||
| ENST00000600737.5:c.2028G>A | ENSP00000473211.1:p.Lys676= | |
| NM_001166111.1:c.2055G>A | NP_001159583.1:p.Lys685= | |
| NM_001166112.1:c.1833G>A | NP_001159584.1:p.Lys611= | |
| NM_001166113.1:c.1911G>A | NP_001159585.1:p.Lys637= | |
| NM_001166114.1:c.2028G>A | NP_001159586.1:p.Lys676= | |
| NM_006702.4:c.1911G>A | NP_006693.3:p.Lys637= | |
| NM_001166111.2:c.2055G>A | NP_001159583.1:p.Lys685= | |
| NM_001166114.2:c.2028G>A MANE Select | NP_001159586.1:p.Lys676= | |
| NM_006702.5:c.1911G>A | NP_006693.3:p.Lys637= | |
| NM_001166112.2:c.1833G>A | NP_001159584.1:p.Lys611= |