Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833845C>A , CM000686.2:g.12833845C>A | GRCh38 |
| NC_000024.9:g.14945771C>A , CM000686.1:g.14945771C>A | GRCh37 |
| NC_000024.8:g.13455165C>A | NCBI36 |
| NG_008311.1:g.137612C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.5179C>A | ENSP00000498372.1:p.Gln1727Lys | |
| ENST00000338981.7:c.5179C>A MANE Select | ENSP00000342812.3:p.Gln1727Lys | |
| ENST00000426564.6:n.5191C>A | ||
| NM_004654.3:c.5179C>A | NP_004645.2:p.Gln1727Lys | |
| XM_011531469.1:c.5179C>A | XP_011529771.1:p.Gln1727Lys | |
| XM_011531470.1:c.4945C>A | XP_011529772.1:p.Gln1649Lys | |
| XM_017030078.2:c.5194C>A | XP_016885567.1:p.Gln1732Lys | |
| NM_004654.4:c.5179C>A MANE Select | NP_004645.2:p.Gln1727Lys |