Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132496C= , CM000669.2:g.147132496C= | GRCh38 |
| NC_000007.13:g.146829588C= , CM000669.1:g.146829588C= | GRCh37 |
| NC_000007.12:g.146460521C= | NCBI36 |
| NG_007092.2:g.1021136C= | |
| NG_007092.3:g.1021496C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1335C= MANE Select | ENSP00000354778.3:p.Ile445= | |
| ENST00000636561.1:n.1238C= | ||
| ENST00000636870.1:n.1197C= | ||
| ENST00000637150.1:n.1264C= | ||
| ENST00000637694.1:n.1238C= | ||
| ENST00000637825.1:n.818C= | ||
| ENST00000638117.1:n.1238C= | ||
| ENST00000361727.7:c.1335C= | ENSP00000354778.3:p.Ile445= | |
| NM_014141.5:c.1335C= | NP_054860.1:p.Ile445= | |
| XM_017011950.2:c.1335C= | XP_016867439.1:p.Ile445= | |
| NM_014141.6:c.1335C= MANE Select | NP_054860.1:p.Ile445= |