Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778472T>G , CM000682.2:g.6778472T>G | GRCh38 |
| NC_000020.10:g.6759119T>G , CM000682.1:g.6759119T>G | GRCh37 |
| NC_000020.9:g.6707119T>G | NCBI36 |
| NG_023233.1:g.15375T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.574T>G MANE Select | ENSP00000368104.3:p.Leu192Val | |
| ENST00000378827.4:c.574T>G | ENSP00000368104.3:p.Leu192Val | |
| NM_001200.2:c.574T>G | NP_001191.1:p.Leu192Val | |
| XM_011529323.1:c.106T>G | XP_011527625.1:p.Leu36Val | |
| NM_001200.3:c.574T>G | NP_001191.1:p.Leu192Val | |
| NM_001200.4:c.574T>G MANE Select | NP_001191.1:p.Leu192Val |