Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670862G>T , CM000665.2:g.81670862G>T | GRCh38 |
| NC_000003.11:g.81720013G>T , CM000665.1:g.81720013G>T | GRCh37 |
| NC_000003.10:g.81802703G>T | NCBI36 |
| NG_011810.1:g.95939C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.405C>A MANE Select | ENSP00000410833.2:p.Leu135= | |
| ENST00000429644.6:c.405C>A | ENSP00000410833.2:p.Leu135= | |
| ENST00000477426.1:n.121C>A | ||
| ENST00000489715.1:c.282C>A | ENSP00000419638.1:p.Leu94= | |
| NM_000158.3:c.405C>A | NP_000149.3:p.Leu135= | |
| NM_000158.4:c.405C>A MANE Select | NP_000149.4:p.Leu135= |