gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017744 (NFE)
Genomes Max Group AF
0.00015874 (NFE)
Exomes Max Group AF
0.00017384 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902425C>T , CM000678.2:g.87902425C>T | GRCh38 |
| NC_000016.9:g.87936031C>T , CM000678.1:g.87936031C>T | GRCh37 |
| NC_000016.8:g.86493532C>T | NCBI36 |
| NG_033227.1:g.39082G>A | |
| NG_033227.2:g.39105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.555G>A | ENSP00000497934.1:p.Lys185= | |
| ENST00000648177.1:c.436G>A | ENSP00000497626.1:p.Gly146Arg | |
| ENST00000649158.1:c.555G>A | ENSP00000496993.1:p.Lys185= | |
| ENST00000649794.3:c.555G>A MANE Select | ENSP00000498065.2:p.Lys185= | |
| ENST00000309893.3:c.555G>A | ENSP00000309649.2:p.Lys185= | |
| NM_001739.1:c.555G>A | NP_001730.1:p.Lys185= | |
| XM_011523309.1:c.555G>A | XP_011521611.1:p.Lys185= | |
| XM_011523310.1:c.555G>A | XP_011521612.1:p.Lys185= | |
| XR_933417.1:n.674G>A | ||
| NM_001739.2:c.555G>A MANE Select | NP_001730.1:p.Lys185= | |
| XM_011523309.2:c.555G>A | XP_011521611.1:p.Lys185= | |
| XM_017023646.1:c.555G>A | XP_016879135.1:p.Lys185= | |
| XM_024450434.1:c.177G>A | XP_024306202.1:p.Lys59= | |
| XR_002957839.1:n.680G>A | ||
| NM_001367225.1:c.555G>A | NP_001354154.1:p.Lys185= | |
| NR_159798.1:n.634G>A | ||
| NR_159799.1:n.515G>A |