gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033863 (SAS)
Exomes Max Group AF
0.00035797 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144416619G>A , CM000670.2:g.144416619G>A | GRCh38 |
| NC_000008.10:g.145642003G>A , CM000670.1:g.145642003G>A | GRCh37 |
| NC_000008.9:g.145612811G>A | NCBI36 |
| NG_012234.2:g.5272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.171C>T MANE Select | ENSP00000301305.4:p.Cys57= | |
| ENST00000301305.7:c.171C>T | ENSP00000301305.3:p.Cys57= | |
| ENST00000526658.1:c.171C>T | ENSP00000434512.1:p.Cys57= | |
| NM_130849.3:c.171C>T | NP_570901.2:p.Cys57= | |
| XM_006716599.1:c.171C>T | XP_006716662.1:p.Cys57= | |
| XM_011517153.1:c.171C>T | XP_011515455.1:p.Cys57= | |
| XM_024447188.1:c.171C>T | XP_024302956.1:p.Cys57= | |
| XM_024447189.1:c.171C>T | XP_024302957.1:p.Cys57= | |
| NM_001374839.1:c.171C>T | NP_001361768.1:p.Cys57= | |
| NM_130849.4:c.171C>T MANE Select | NP_570901.3:p.Cys57= |