Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529676C>A , CM000681.2:g.7529676C>A | GRCh38 |
| NC_000019.9:g.7594562C>A , CM000681.1:g.7594562C>A | GRCh37 |
| NC_000019.8:g.7500562C>A | NCBI36 |
| NG_013374.1:g.525C>A | |
| NG_015806.1:g.12067C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1323C>A MANE Select | ENSP00000264079.5:p.Phe441Leu | |
| ENST00000264079.10:c.1323C>A | ENSP00000264079.5:p.Phe441Leu | |
| ENST00000394321.9:n.1638C>A | ||
| ENST00000594692.1:n.319C>A | ||
| ENST00000595860.5:n.506C>A | ||
| ENST00000599334.1:c.200C>A | ||
| NM_020533.2:c.1323C>A | NP_065394.1:p.Phe441Leu | |
| NM_020533.3:c.1323C>A MANE Select | NP_065394.1:p.Phe441Leu |