Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996759A= , CM000665.2:g.164996759A= | GRCh38 |
| NC_000003.11:g.164714547A= , CM000665.1:g.164714547A= | GRCh37 |
| NC_000003.10:g.166197241A= | NCBI36 |
| NG_017043.1:g.86737T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4554T= MANE Select | ENSP00000264382.3:p.Phe1518= | |
| ENST00000264382.7:c.4554T= | ENSP00000264382.3:p.Phe1518= | |
| NM_001041.3:c.4554T= | NP_001032.2:p.Phe1518= | |
| XM_011513078.1:c.4455T= | XP_011511380.1:p.Phe1485= | |
| XM_011513078.2:c.4455T= | XP_011511380.1:p.Phe1485= | |
| NM_001041.4:c.4554T= MANE Select | NP_001032.2:p.Phe1518= |