Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143331264C>A , CM000669.2:g.143331264C>A | GRCh38 |
| NC_000007.13:g.143028357C>A , CM000669.1:g.143028357C>A | GRCh37 |
| NC_000007.12:g.142738479C>A | NCBI36 |
| NG_009815.1:g.20139C>A | |
| NG_009815.2:g.20139C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000083.3:c.1012C>A MANE Select | NP_000074.3:p.Arg338= |
| ENST00000343257.7:c.1012C>A MANE Select | ENSP00000339867.2:p.Arg338= |
| NM_000083.2:c.1012C>A | NP_000074.2:p.Arg338= |
| NR_046453.1:n.1102C>A | |
| NR_046453.2:n.1117C>A | |
| ENST00000343257.6:c.1012C>A | ENSP00000339867.2:p.Arg338= |
| ENST00000432192.6:c.836C>A | |
| ENST00000650516.2:c.1012C>A | ENSP00000498052.2:p.Arg338= |
| XM_011515781.1:c.1012C>A | XP_011514083.1:p.Arg338= |
| XM_017011739.1:c.562C>A | XP_016867228.1:p.Arg188= |
| XM_017011740.1:c.562C>A | XP_016867229.1:p.Arg188= |