Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259911C>G , CM000667.2:g.151259911C>G | GRCh38 |
| NC_000005.9:g.150639472C>G , CM000667.1:g.150639472C>G | GRCh37 |
| NC_000005.8:g.150619665C>G | NCBI36 |
| NG_009059.1:g.11860C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.238C>G MANE Select | ENSP00000349687.3:p.Leu80Val | |
| ENST00000357164.3:c.238C>G | ENSP00000349687.3:p.Leu80Val | |
| ENST00000523004.1:c.113C>G | ||
| ENST00000523466.5:c.283C>G | ENSP00000429100.1:p.Leu95Val | |
| NM_000405.4:c.238C>G | NP_000396.2:p.Leu80Val | |
| NM_001167607.1:c.238C>G | NP_001161079.1:p.Leu80Val | |
| NM_000405.5:c.238C>G MANE Select | NP_000396.2:p.Leu80Val | |
| NM_001167607.2:c.238C>G | NP_001161079.1:p.Leu80Val | |
| NM_001167607.3:c.238C>G | NP_001161079.1:p.Leu80Val |