Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530319T>C , CM000681.2:g.7530319T>C | GRCh38 |
| NC_000019.9:g.7595205T>C , CM000681.1:g.7595205T>C | GRCh37 |
| NC_000019.8:g.7501205T>C | NCBI36 |
| NG_013374.1:g.1168T>C | |
| NG_015806.1:g.12710T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1393T>C MANE Select | NP_065394.1:p.Phe465Leu |
| ENST00000264079.11:c.1393T>C MANE Select | ENSP00000264079.5:p.Phe465Leu |
| NM_020533.2:c.1393T>C | NP_065394.1:p.Phe465Leu |
| ENST00000264079.10:c.1393T>C | ENSP00000264079.5:p.Phe465Leu |
| ENST00000394321.9:n.1708T>C | |
| ENST00000594692.1:n.389T>C | |
| ENST00000595860.5:n.576T>C | |
| ENST00000599334.1:c.237-116T>C |