gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006049 (NFE)
Exomes Max Group AF
0.00006399 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479657G>A , CM000678.2:g.75479657G>A | GRCh38 |
| NC_000016.9:g.75513555G>A , CM000678.1:g.75513555G>A | GRCh37 |
| NC_000016.8:g.74071056G>A | NCBI36 |
| NG_016442.1:g.20372C>T | |
| NG_016442.2:g.20785C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.172C>T MANE Select | ENSP00000328983.4:p.Gln58Ter | |
| ENST00000390664.3:c.172C>T | ENSP00000375079.2:p.Gln58Ter | |
| ENST00000649341.1:c.172C>T | ENSP00000497635.1:p.Gln58Ter | |
| ENST00000649824.1:c.172C>T | ENSP00000496806.1:p.Gln58Ter | |
| ENST00000332272.8:c.172C>T | ENSP00000328983.4:p.Gln58Ter | |
| ENST00000390664.2:c.172C>T | ENSP00000375079.2:p.Gln58Ter | |
| NM_021615.4:c.172C>T | NP_067628.1:p.Gln58Ter | |
| XM_005255955.3:c.172C>T | XP_005256012.1:p.Gln58Ter | |
| XM_011523085.1:c.172C>T | XP_011521387.1:p.Gln58Ter | |
| NM_021615.5:c.172C>T MANE Select | NP_067628.1:p.Gln58Ter | |
| XM_005255955.5:c.172C>T | XP_005256012.1:p.Gln58Ter | |
| XM_011523085.3:c.172C>T | XP_011521387.1:p.Gln58Ter | |
| NR_163480.1:n.733+2160C>T | ||
| NR_163481.1:n.577+2160C>T |