Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101320352A>C , CM000665.2:g.101320352A>C | GRCh38 |
| NC_000003.11:g.101039196A>C , CM000665.1:g.101039196A>C | GRCh37 |
| NC_000003.10:g.102521886A>C | NCBI36 |
| NG_028284.1:g.5224T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.21T>G MANE Select | NP_057331.2:p.Phe7Leu |
| ENST00000193391.8:c.21T>G MANE Select | ENSP00000193391.6:p.Phe7Leu |
| NM_016247.3:c.21T>G | NP_057331.2:p.Phe7Leu |
| ENST00000193391.7:c.21T>G | ENSP00000193391.6:p.Phe7Leu |
| XM_011512872.1:c.-846T>G | XP_011511174.1:n.-846T>G |