gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003774 (NFE)
Exomes Max Group AF
0.00003977 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351678C>A , CM000669.2:g.143351678C>A | GRCh38 |
| NC_000007.13:g.143048771C>A , CM000669.1:g.143048771C>A | GRCh37 |
| NC_000007.12:g.142758893C>A | NCBI36 |
| NG_009815.1:g.40553C>A | |
| NG_009815.2:g.40553C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2680C>A | ENSP00000498052.2:p.Arg894= | |
| ENST00000343257.7:c.2680C>A MANE Select | ENSP00000339867.2:p.Arg894= | |
| ENST00000432192.6:c.2504C>A | ||
| ENST00000343257.6:c.2680C>A | ENSP00000339867.2:p.Arg894= | |
| NM_000083.2:c.2680C>A | NP_000074.2:p.Arg894= | |
| NR_046453.1:n.2620C>A | ||
| XM_011515781.1:c.2704C>A | XP_011514083.1:p.Arg902= | |
| XM_011515782.1:c.1426C>A | XP_011514084.1:p.Arg476= | |
| XM_011515782.2:c.1426C>A | XP_011514084.1:p.Arg476= | |
| XM_017011739.1:c.2254C>A | XP_016867228.1:p.Arg752= | |
| XM_017011740.1:c.2230C>A | XP_016867229.1:p.Arg744= | |
| NM_000083.3:c.2680C>A MANE Select | NP_000074.3:p.Arg894= | |
| NR_046453.2:n.2635C>A |