Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37727851C>G , CM000685.2:g.37727851C>G | GRCh38 |
| NC_000023.10:g.37587104C>G , CM000685.1:g.37587104C>G | GRCh37 |
| NC_000023.9:g.37472043C>G | NCBI36 |
| NG_007473.1:g.46992C>G | |
| NG_007473.3:g.46972C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.724C>G MANE Select | ENSP00000367879.3:p.Leu242Val | |
| ENST00000378616.3:c.724C>G | ENSP00000367879.3:p.Leu242Val | |
| ENST00000465127.1:c.171+301851C>G | ENSP00000417050.1:n.171+301851C>G | |
| NM_021083.2:c.724C>G | NP_066569.1:p.Leu242Val | |
| NM_021083.4:c.724C>G MANE Select | NP_066569.1:p.Leu242Val |