Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833813T>A , CM000686.2:g.12833813T>A | GRCh38 |
| NC_000024.9:g.14945739T>A , CM000686.1:g.14945739T>A | GRCh37 |
| NC_000024.8:g.13455133T>A | NCBI36 |
| NG_008311.1:g.137580T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.5147T>A | ENSP00000498372.1:p.Leu1716Gln | |
| ENST00000338981.7:c.5147T>A MANE Select | ENSP00000342812.3:p.Leu1716Gln | |
| ENST00000426564.6:n.5159T>A | ||
| NM_004654.3:c.5147T>A | NP_004645.2:p.Leu1716Gln | |
| XM_011531469.1:c.5147T>A | XP_011529771.1:p.Leu1716Gln | |
| XM_011531470.1:c.4913T>A | XP_011529772.1:p.Leu1638Gln | |
| XM_017030078.2:c.5162T>A | XP_016885567.1:p.Leu1721Gln | |
| NM_004654.4:c.5147T>A MANE Select | NP_004645.2:p.Leu1716Gln |