gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14735892 (AFR)
Genomes Max Group AF
0.14730741 (AFR)
Exomes Max Group AF
0.14529507 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.21706706G>A , CM000682.2:g.21706706G>A | GRCh38 |
| NC_000020.10:g.21687344G>A , CM000682.1:g.21687344G>A | GRCh37 |
| NC_000020.9:g.21635344G>A | NCBI36 |
| NG_047065.1:g.6048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613128.5:c.555G>A MANE Select | ENSP00000481334.1:p.Lys185= | |
| ENST00000398485.6:c.555G>A | ENSP00000381499.2:p.Lys185= | |
| ENST00000444366.2:c.483G>A | ENSP00000410355.2:p.Lys161= | |
| ENST00000460221.1:n.57-175G>A | ||
| ENST00000613128.4:c.555G>A | ENSP00000481334.1:p.Lys185= | |
| NM_001257096.1:c.555G>A | NP_001244025.1:p.Lys185= | |
| NM_006192.4:c.555G>A | NP_006183.2:p.Lys185= | |
| NM_006192.5:c.555G>A | NP_006183.2:p.Lys185= | |
| NM_001257096.2:c.555G>A MANE Select | NP_001244025.1:p.Lys185= |