Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142943026A= , CM000669.2:g.142943026A= | GRCh38 |
| NC_000007.13:g.142640113A= , CM000669.1:g.142640113A= | GRCh37 |
| NC_000007.12:g.142350235A= | NCBI36 |
| NG_007492.1:g.24391T= | |
| NG_007492.2:g.24391T= | |
| NG_007492.3:g.24391T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.1790T= MANE Select | ENSP00000347409.2:p.Leu597= | |
| ENST00000355265.6:c.1790T= | ENSP00000347409.2:p.Leu597= | |
| ENST00000470850.1:n.169-79T= | ||
| ENST00000478969.1:n.129T= | ||
| NM_000420.2:c.1790T= | NP_000411.1:p.Leu597= | |
| XM_005249993.2:c.1826T= | XP_005250050.1:p.Leu609= | |
| XM_005249994.3:c.863T= | XP_005250051.1:p.Leu288= | |
| NM_000420.3:c.1790T= MANE Select | NP_000411.1:p.Leu597= |