Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147108278G>A , CM000669.2:g.147108278G>A | GRCh38 |
| NC_000007.13:g.146805370G>A , CM000669.1:g.146805370G>A | GRCh37 |
| NC_000007.12:g.146436303G>A | NCBI36 |
| NG_007092.2:g.996918G>A | |
| NG_007092.3:g.997278G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.682G>A MANE Select | NP_054860.1:p.Gly228Arg |
| ENST00000361727.8:c.682G>A MANE Select | ENSP00000354778.3:p.Gly228Arg |
| NM_014141.5:c.682G>A | NP_054860.1:p.Gly228Arg |
| ENST00000361727.7:c.682G>A | ENSP00000354778.3:p.Gly228Arg |
| ENST00000636561.1:n.585G>A | |
| ENST00000636870.1:n.544G>A | |
| ENST00000637150.1:n.611G>A | |
| ENST00000637555.1:n.340G>A | |
| ENST00000637694.1:n.585G>A | |
| ENST00000637825.1:n.165G>A | |
| ENST00000638117.1:n.585G>A | |
| XM_017011950.2:c.682G>A | XP_016867439.1:p.Gly228Arg |