Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670861C>G , CM000665.2:g.81670861C>G | GRCh38 |
| NC_000003.11:g.81720012C>G , CM000665.1:g.81720012C>G | GRCh37 |
| NC_000003.10:g.81802702C>G | NCBI36 |
| NG_011810.1:g.95940G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.406G>C MANE Select | ENSP00000410833.2:p.Val136Leu | |
| ENST00000429644.6:c.406G>C | ENSP00000410833.2:p.Val136Leu | |
| ENST00000477426.1:n.122G>C | ||
| ENST00000489715.1:c.283G>C | ENSP00000419638.1:p.Val95Leu | |
| NM_000158.3:c.406G>C | NP_000149.3:p.Val136Leu | |
| NM_000158.4:c.406G>C MANE Select | NP_000149.4:p.Val136Leu |