Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530321C>A , CM000681.2:g.7530321C>A | GRCh38 |
| NC_000019.9:g.7595207C>A , CM000681.1:g.7595207C>A | GRCh37 |
| NC_000019.8:g.7501207C>A | NCBI36 |
| NG_013374.1:g.1170C>A | |
| NG_015806.1:g.12712C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1395C>A MANE Select | NP_065394.1:p.Phe465Leu |
| ENST00000264079.11:c.1395C>A MANE Select | ENSP00000264079.5:p.Phe465Leu |
| NM_020533.2:c.1395C>A | NP_065394.1:p.Phe465Leu |
| ENST00000264079.10:c.1395C>A | ENSP00000264079.5:p.Phe465Leu |
| ENST00000394321.9:n.1710C>A | |
| ENST00000594692.1:n.391C>A | |
| ENST00000595860.5:n.578C>A | |
| ENST00000599334.1:c.237-114C>A |