Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.133152412C>T , CM000666.2:g.133152412C>T | GRCh38 |
| NC_000004.11:g.134073567C>T , CM000666.1:g.134073567C>T | GRCh37 |
| NC_000004.10:g.134293017C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032961.3:c.2272C>T MANE Select | NP_116586.1:p.Leu758Phe |
| ENST00000264360.7:c.2272C>T MANE Select | ENSP00000264360.4:p.Leu758Phe |
| NM_020815.2:c.2272C>T | NP_065866.1:p.Leu758Phe |
| NM_020815.3:c.2272C>T | NP_065866.1:p.Leu758Phe |
| NM_032961.2:c.2272C>T | NP_116586.1:p.Leu758Phe |
| ENST00000264360.6:c.2272C>T | ENSP00000264360.4:p.Leu758Phe |
| ENST00000618019.1:c.2272C>T | ENSP00000480512.1:p.Leu758Phe |
| XM_011532150.1:c.2272C>T | XP_011530452.1:p.Leu758Phe |
| XM_011532150.2:c.2272C>T | XP_011530452.1:p.Leu758Phe |