Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833749T>G , CM000686.2:g.12833749T>G | GRCh38 |
| NC_000024.9:g.14945675T>G , CM000686.1:g.14945675T>G | GRCh37 |
| NC_000024.8:g.13455069T>G | NCBI36 |
| NG_008311.1:g.137516T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.5083T>G | ENSP00000498372.1:p.Leu1695Val | |
| ENST00000338981.7:c.5083T>G MANE Select | ENSP00000342812.3:p.Leu1695Val | |
| ENST00000426564.6:n.5095T>G | ||
| NM_004654.3:c.5083T>G | NP_004645.2:p.Leu1695Val | |
| XM_011531469.1:c.5083T>G | XP_011529771.1:p.Leu1695Val | |
| XM_011531470.1:c.4849T>G | XP_011529772.1:p.Leu1617Val | |
| XM_017030078.2:c.5098T>G | XP_016885567.1:p.Leu1700Val | |
| NM_004654.4:c.5083T>G MANE Select | NP_004645.2:p.Leu1695Val |