Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001021C>G , CM000663.2:g.94001021C>G | GRCh38 |
| NC_000001.10:g.94466577C>G , CM000663.1:g.94466577C>G | GRCh37 |
| NC_000001.9:g.94239165C>G | NCBI36 |
| NG_009073.1:g.125129G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6367G>C MANE Select | ENSP00000359245.3:p.Val2123Leu | |
| ENST00000370225.3:c.6367G>C | ENSP00000359245.3:p.Val2123Leu | |
| ENST00000536513.5:c.2743G>C | ENSP00000439707.2:p.Val915Leu | |
| NM_000350.2:c.6367G>C | NP_000341.2:p.Val2123Leu | |
| NM_000350.3:c.6367G>C MANE Select | NP_000341.2:p.Val2123Leu |