gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00171931 (SAS)
Genomes Max Group AF
0.00097364 (SAS)
Exomes Max Group AF
0.00171769 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13891072G>A , CM000667.2:g.13891072G>A | GRCh38 |
| NC_000005.9:g.13891181G>A , CM000667.1:g.13891181G>A | GRCh37 |
| NC_000005.8:g.13944181G>A | NCBI36 |
| NG_013081.1:g.58409C>T | |
| NG_013081.2:g.58409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2481C>T MANE Select | ENSP00000265104.4:p.Arg827= | |
| ENST00000681290.1:c.2436C>T | ENSP00000505288.1:p.Arg812= | |
| ENST00000265104.4:c.2481C>T | ENSP00000265104.4:p.Arg827= | |
| NM_001369.2:c.2481C>T | NP_001360.1:p.Arg827= | |
| XM_005248262.2:c.2436C>T | XP_005248319.1:p.Arg812= | |
| XM_011513990.1:c.2481C>T | XP_011512292.1:p.Arg827= | |
| XR_925598.1:n.2688C>T | ||
| XM_005248262.3:c.2589C>T | XP_005248319.2:p.Arg863= | |
| XM_017009177.1:c.2589C>T | XP_016864666.1:p.Arg863= | |
| XM_017009178.1:c.1494C>T | XP_016864667.1:p.Arg498= | |
| XM_017009179.2:c.1494C>T | XP_016864668.1:p.Arg498= | |
| XM_017009180.1:c.2589C>T | XP_016864669.1:p.Arg863= | |
| XM_017009181.1:c.2589C>T | XP_016864670.1:p.Arg863= | |
| XM_017009182.1:c.2589C>T | XP_016864671.1:p.Arg863= | |
| XM_017009183.1:c.2589C>T | XP_016864672.1:p.Arg863= | |
| XM_017009184.1:c.2589C>T | XP_016864673.1:p.Arg863= | |
| XM_017009187.1:c.2589C>T | XP_016864676.1:p.Arg863= | |
| XM_024454388.1:c.1494C>T | XP_024310156.1:p.Arg498= | |
| XM_024454389.1:c.1083C>T | XP_024310157.1:p.Arg361= | |
| XR_001742034.1:n.2606C>T | ||
| XR_001742035.1:n.2606C>T | ||
| NM_001369.3:c.2481C>T MANE Select | NP_001360.1:p.Arg827= |