Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69118707G>A , CM000665.2:g.69118707G>A | GRCh38 |
| NC_000003.11:g.69167858G>A , CM000665.1:g.69167858G>A | GRCh37 |
| NC_000003.10:g.69250548G>A | NCBI36 |
| NG_041828.1:g.8889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.1648C>T MANE Select | ENSP00000414670.3:p.Leu550Phe | |
| ENST00000420581.6:c.1648C>T | ENSP00000414670.2:p.Leu550Phe | |
| ENST00000475434.1:c.1648C>T | ENSP00000418645.1:p.Leu550Phe | |
| ENST00000489031.5:c.1648C>T | ENSP00000417210.1:p.Leu550Phe | |
| NM_001304418.1:c.1648C>T | NP_001291347.1:p.Leu550Phe | |
| NM_198271.4:c.1648C>T | NP_938012.2:p.Leu550Phe | |
| NM_001304418.3:c.1648C>T | NP_001291347.1:p.Leu550Phe | |
| NM_198271.5:c.1648C>T MANE Select | NP_938012.2:p.Leu550Phe |