Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564882C= , CM000684.2:g.36564882C= | GRCh38 |
| NC_000022.10:g.36960929C= , CM000684.1:g.36960929C= | GRCh37 |
| NC_000022.9:g.35290875C= | NCBI36 |
| NG_031861.1:g.142762G= | |
| NG_031861.2:g.142977G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.441G= MANE Select | ENSP00000300105.6:p.Leu147= | |
| ENST00000300105.6:c.441G= | ENSP00000300105.6:p.Leu147= | |
| NM_006078.3:c.441G= | NP_006069.1:p.Leu147= | |
| NM_006078.4:c.441G= | NP_006069.1:p.Leu147= | |
| XM_017028531.2:c.183G= | XP_016884020.1:p.Leu61= | |
| NM_001379051.1:c.372G= | NP_001365980.1:p.Leu124= | |
| NM_006078.5:c.441G= MANE Select | NP_006069.1:p.Leu147= | |
| NR_166440.1:n.1807G= |