gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00878224 (AFR)
Genomes Max Group AF
0.00873274 (AFR)
Exomes Max Group AF
0.0083254 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29673328G>A , CM000668.2:g.29673328G>A | GRCh38 |
| NC_000006.11:g.29641105G>A , CM000668.1:g.29641105G>A | GRCh37 |
| NC_000006.10:g.29749084G>A | NCBI36 |
| NG_013045.1:g.8827C>T | |
| NG_031873.1:g.21348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376883.2:c.783C>T MANE Select | ENSP00000366080.2:p.Cys261= | |
| ENST00000488757.6:c.567C>T | ENSP00000418259.2:p.Cys189= | |
| ENST00000376881.4:c.531C>T | ENSP00000366078.4:p.Cys177= | |
| ENST00000376883.1:c.723C>T | ENSP00000366080.1:p.Cys241= | |
| ENST00000488757.5:c.783C>T | ENSP00000418259.1:p.Cys261= | |
| NM_001109809.2:c.783C>T | NP_001103279.2:p.Cys261= | |
| XM_006715087.2:c.567C>T | XP_006715150.1:p.Cys189= | |
| XM_011514570.1:c.783C>T | XP_011512872.1:p.Cys261= | |
| NM_001109809.3:c.783C>T | NP_001103279.2:p.Cys261= | |
| NM_001366333.1:c.567C>T | NP_001353262.1:p.Cys189= | |
| NM_001109809.4:c.783C>T | NP_001103279.2:p.Cys261= | |
| NM_001366333.2:c.567C>T | NP_001353262.1:p.Cys189= | |
| NM_001109809.5:c.783C>T MANE Select | NP_001103279.2:p.Cys261= |