Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818791G>C , CM000671.2:g.129818791G>C | GRCh38 |
| NC_000009.11:g.132581070G>C , CM000671.1:g.132581070G>C | GRCh37 |
| NC_000009.10:g.131620891G>C | NCBI36 |
| NG_008049.1:g.10372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.574C>G MANE Select | ENSP00000345719.4:p.Leu192Val | |
| ENST00000651202.1:c.670C>G | ENSP00000498222.1:p.Leu224Val | |
| ENST00000351698.4:c.574C>G | ENSP00000345719.4:p.Leu192Val | |
| ENST00000473604.2:n.684C>G | ||
| NM_000113.2:c.574C>G | NP_000104.1:p.Leu192Val | |
| XR_929731.1:n.734C>G | ||
| XR_929731.3:n.602C>G | ||
| NM_000113.3:c.574C>G MANE Select | NP_000104.1:p.Leu192Val |