gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99818820C>A , CM000672.2:g.99818820C>A | GRCh38 |
| NC_000010.10:g.101578577C>A , CM000672.1:g.101578577C>A | GRCh37 |
| NC_000010.9:g.101568567C>A | NCBI36 |
| NG_011798.1:g.41115C>A | |
| NG_011798.2:g.41223C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2302C>A MANE Select | ENSP00000497274.1:p.Arg768= | |
| ENST00000370449.8:c.2302C>A | ENSP00000359478.4:p.Arg768= | |
| NM_000392.4:c.2302C>A | NP_000383.1:p.Arg768= | |
| XM_006717630.2:c.1606C>A | XP_006717693.1:p.Arg536= | |
| XM_006717631.2:c.2302C>A | XP_006717694.1:p.Arg768= | |
| XM_011539291.1:c.2302C>A | XP_011537593.1:p.Arg768= | |
| XR_945604.1:n.2491C>A | ||
| XR_945605.1:n.2493C>A | ||
| NM_000392.5:c.2302C>A MANE Select | NP_000383.2:p.Arg768= | |
| XM_006717630.3:c.1606C>A | XP_006717693.1:p.Arg536= | |
| XM_006717631.4:c.2302C>A | XP_006717694.1:p.Arg768= | |
| XM_011539291.3:c.2302C>A | XP_011537593.1:p.Arg768= | |
| XM_017015675.2:c.2302C>A | XP_016871164.1:p.Arg768= | |
| XR_945604.3:n.2545C>A | ||
| XR_945605.3:n.2545C>A |