gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161785820G>T , CM000668.2:g.161785820G>T | GRCh38 |
| NC_000006.11:g.162206852G>T , CM000668.1:g.162206852G>T | GRCh37 |
| NC_000006.10:g.162126842G>T | NCBI36 |
| NG_008289.1:g.946983C>A | |
| NG_008289.2:g.946983C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.701C>A | ENSP00000343589.4:n.701C>A | |
| ENST00000366894.6:c.582C>A | ENSP00000355860.2:n.582C>A | |
| ENST00000366898.6:c.823C>A MANE Select | ENSP00000355865.1:p.Arg275= | |
| ENST00000673871.1:c.818C>A | ||
| ENST00000674006.1:n.208C>A | ||
| ENST00000674436.1:n.459C>A | ||
| ENST00000674501.1:n.930C>A | ||
| ENST00000338468.7:c.250C>A | ENSP00000343589.3:p.Arg84= | |
| ENST00000366892.5:c.823C>A | ENSP00000355858.1:p.Arg275= | |
| ENST00000366894.5:c.250C>A | ENSP00000355860.1:p.Arg84= | |
| ENST00000366896.5:c.376C>A | ENSP00000355862.1:p.Arg126= | |
| ENST00000366897.5:c.739C>A | ENSP00000355863.1:p.Arg247= | |
| ENST00000366898.5:c.823C>A | ENSP00000355865.1:p.Arg275= | |
| ENST00000479615.5:c.586C>A | ENSP00000434414.1:p.Arg196= | |
| NM_004562.2:c.823C>A | NP_004553.2:p.Arg275= | |
| NM_013987.2:c.739C>A | NP_054642.2:p.Arg247= | |
| NM_013988.2:c.376C>A | NP_054643.2:p.Arg126= | |
| XM_011535863.1:c.820C>A | XP_011534165.1:p.Arg274= | |
| XM_011535864.1:c.823C>A | XP_011534166.1:p.Arg275= | |
| XM_011535865.1:c.823C>A | XP_011534167.1:p.Arg275= | |
| XM_017010908.1:c.937C>A | XP_016866397.1:p.Arg313= | |
| XM_017010909.2:c.583C>A | XP_016866398.1:p.Arg195= | |
| XM_024446449.1:c.586C>A | XP_024302217.1:p.Arg196= | |
| XR_001743443.2:n.929C>A | ||
| NM_004562.3:c.823C>A MANE Select | NP_004553.2:p.Arg275= | |
| NM_013987.3:c.739C>A | NP_054642.2:p.Arg247= | |
| NM_013988.3:c.376C>A | NP_054643.2:p.Arg126= |