Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.761781G>T , CM000669.2:g.761781G>T | GRCh38 |
| NC_000007.13:g.801418G>T , CM000669.1:g.801418G>T | GRCh37 |
| NC_000007.12:g.767944G>T | NCBI36 |
| NG_033137.1:g.40081G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.1499G>T MANE Select | NP_060272.3:p.Cys500Phe |
| ENST00000297440.11:c.1499G>T MANE Select | ENSP00000297440.6:p.Cys500Phe |
| NM_017802.3:c.1499G>T | NP_060272.3:p.Cys500Phe |
| NR_075098.1:n.1457G>T | |
| NR_075098.2:n.1459G>T | |
| ENST00000297440.10:c.1499G>T | ENSP00000297440.6:p.Cys500Phe |
| ENST00000440747.5:c.903G>T | |
| XM_024446813.1:c.1499G>T | XP_024302581.1:p.Cys500Phe |
| XM_024446814.1:c.893G>T | XP_024302582.1:p.Cys298Phe |