Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192783G>A , CM000665.2:g.185192783G>A | GRCh38 |
| NC_000003.11:g.184910571G>A , CM000665.1:g.184910571G>A | GRCh37 |
| NC_000003.10:g.186393265G>A | NCBI36 |
| NG_015999.1:g.66316C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001966.4:c.1615C>T MANE Select | NP_001957.2:p.Leu539Phe |
| ENST00000231887.8:c.1615C>T MANE Select | ENSP00000231887.3:p.Leu539Phe |
| NM_001166415.1:c.1327C>T | NP_001159887.1:p.Leu443Phe |
| NM_001166415.2:c.1327C>T | NP_001159887.1:p.Leu443Phe |
| NM_001966.3:c.1615C>T | NP_001957.2:p.Leu539Phe |
| ENST00000231887.7:c.1615C>T | ENSP00000231887.3:p.Leu539Phe |
| ENST00000456310.5:c.1327C>T | ENSP00000387746.1:p.Leu443Phe |
| XM_006713525.1:c.991C>T | XP_006713588.1:p.Leu331Phe |
| XM_011512517.1:c.1327C>T | XP_011510819.1:p.Leu443Phe |