Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143474G>A , CM000666.2:g.185143474G>A | GRCh38 |
| NC_000004.11:g.186064628G>A , CM000666.1:g.186064628G>A | GRCh37 |
| NC_000004.10:g.186301622G>A | NCBI36 |
| NG_013001.1:g.5212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.102G>A MANE Select | ENSP00000281456.5:p.Leu34= | |
| ENST00000281456.10:c.102G>A | ENSP00000281456.5:p.Leu34= | |
| ENST00000491736.1:c.102G>A | ENSP00000476711.1:p.Leu34= | |
| NM_001151.3:c.102G>A | NP_001142.2:p.Leu34= | |
| NM_001151.4:c.102G>A MANE Select | NP_001142.2:p.Leu34= |