gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003234 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004359 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121861632C>T , CM000666.2:g.121861632C>T | GRCh38 |
| NC_000004.11:g.122782787C>T , CM000666.1:g.122782787C>T | GRCh37 |
| NC_000004.10:g.123002237C>T | NCBI36 |
| NG_009111.1:g.13856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.213G>A MANE Select | ENSP00000264499.4:p.Leu71= | |
| ENST00000264499.8:c.213G>A | ENSP00000264499.4:p.Leu71= | |
| ENST00000502444.1:n.387G>A | ||
| ENST00000505692.1:n.48G>A | ||
| ENST00000506636.1:c.213G>A | ENSP00000423626.1:p.Leu71= | |
| NM_018190.3:c.213G>A | NP_060660.2:p.Leu71= | |
| NM_176824.2:c.213G>A | NP_789794.1:p.Leu71= | |
| XM_005263106.2:c.213G>A | XP_005263163.1:p.Leu71= | |
| XM_011532079.1:c.213G>A | XP_011530381.1:p.Leu71= | |
| XM_011532080.1:c.213G>A | XP_011530382.1:p.Leu71= | |
| XM_011532081.1:c.213G>A | XP_011530383.1:p.Leu71= | |
| XM_005263106.4:c.213G>A | XP_005263163.1:p.Leu71= | |
| XM_011532079.3:c.213G>A | XP_011530381.1:p.Leu71= | |
| XM_011532080.3:c.213G>A | XP_011530382.1:p.Leu71= | |
| XM_011532081.3:c.213G>A | XP_011530383.1:p.Leu71= | |
| XM_017008357.2:c.213G>A | XP_016863846.1:p.Leu71= | |
| XM_017008358.2:c.213G>A | XP_016863847.1:p.Leu71= | |
| NM_176824.3:c.213G>A MANE Select | NP_789794.1:p.Leu71= | |
| NM_018190.4:c.213G>A | NP_060660.2:p.Leu71= |