Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132343G= , CM000669.2:g.147132343G= | GRCh38 |
| NC_000007.13:g.146829435G= , CM000669.1:g.146829435G= | GRCh37 |
| NC_000007.12:g.146460368G= | NCBI36 |
| NG_007092.2:g.1020983G= | |
| NG_007092.3:g.1021343G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1182G= MANE Select | ENSP00000354778.3:p.Leu394= | |
| ENST00000636561.1:n.1085G= | ||
| ENST00000636870.1:n.1044G= | ||
| ENST00000637150.1:n.1111G= | ||
| ENST00000637694.1:n.1085G= | ||
| ENST00000637825.1:n.665G= | ||
| ENST00000638117.1:n.1085G= | ||
| ENST00000361727.7:c.1182G= | ENSP00000354778.3:p.Leu394= | |
| NM_014141.5:c.1182G= | NP_054860.1:p.Leu394= | |
| XM_017011950.2:c.1182G= | XP_016867439.1:p.Leu394= | |
| NM_014141.6:c.1182G= MANE Select | NP_054860.1:p.Leu394= |