gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010232 (AMR)
Exomes Max Group AF
0.00013784 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40959179C>T , CM000674.2:g.40959179C>T | GRCh38 |
| NC_000012.11:g.41352981C>T , CM000674.1:g.41352981C>T | GRCh37 |
| NC_000012.10:g.39639248C>T | NCBI36 |
| NG_012058.2:g.271624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547849.6:c.1749C>T | ENSP00000448653.1:p.Cys583= | |
| ENST00000551295.7:c.1749C>T MANE Select | ENSP00000447006.1:p.Cys583= | |
| ENST00000347616.5:c.1749C>T | ENSP00000325660.3:p.Cys583= | |
| ENST00000348761.2:c.1716C>T | ENSP00000261160.3:p.Cys572= | |
| ENST00000547702.5:c.1749C>T | ENSP00000448004.1:p.Cys583= | |
| ENST00000547849.5:c.1749C>T | ENSP00000448653.1:p.Cys583= | |
| ENST00000551295.6:c.1749C>T | ENSP00000447006.1:p.Cys583= | |
| NM_001256063.1:c.1749C>T | NP_001242992.1:p.Cys583= | |
| NM_001256064.1:c.1749C>T | NP_001242993.1:p.Cys583= | |
| NM_001843.3:c.1749C>T | NP_001834.2:p.Cys583= | |
| NM_175038.2:c.1716C>T | NP_778203.1:p.Cys572= | |
| XM_005268651.1:c.1749C>T | XP_005268708.1:p.Cys583= | |
| XM_006719241.1:c.1749C>T | XP_006719304.1:p.Cys583= | |
| XM_011537926.1:c.1749C>T | XP_011536228.1:p.Cys583= | |
| XM_011537927.1:c.1749C>T | XP_011536229.1:p.Cys583= | |
| XM_005268651.2:c.1749C>T | XP_005268708.1:p.Cys583= | |
| XM_006719241.2:c.1749C>T | XP_006719304.1:p.Cys583= | |
| XM_011537926.3:c.1749C>T | XP_011536228.1:p.Cys583= | |
| XM_011537927.2:c.1749C>T | XP_011536229.1:p.Cys583= | |
| XM_017018826.2:c.1749C>T | XP_016874315.1:p.Cys583= | |
| XM_017018827.2:c.1749C>T | XP_016874316.1:p.Cys583= | |
| XM_024448843.1:c.1749C>T | XP_024304611.1:p.Cys583= | |
| XR_002957288.1:n.1971C>T | ||
| XR_002957289.1:n.2092C>T | ||
| XR_002957290.1:n.2339C>T | ||
| XR_002957291.1:n.1963C>T | ||
| NM_001843.4:c.1749C>T MANE Select | NP_001834.2:p.Cys583= | |
| NM_001256063.2:c.1749C>T | NP_001242992.1:p.Cys583= | |
| NM_001256064.2:c.1749C>T | NP_001242993.1:p.Cys583= |