Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92810311T>A , CM000676.2:g.92810311T>A | GRCh38 |
| NC_000014.8:g.93276656T>A , CM000676.1:g.93276656T>A | GRCh37 |
| NC_000014.7:g.92346409T>A | NCBI36 |
| NG_023248.2:g.21007T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005113.4:c.1050T>A MANE Select | NP_005104.4:p.Phe350Leu |
| ENST00000163416.7:c.1050T>A MANE Select | ENSP00000163416.2:p.Phe350Leu |
| NM_005113.3:c.1050T>A | NP_005104.3:p.Leu350= |
| ENST00000163416.6:c.1050T>A | ENSP00000163416.2:p.Phe350Leu |
| ENST00000555793.1:n.194T>A | |
| XM_011537420.1:c.1050T>A | XP_011535722.1:p.Phe350Leu |
| XM_011537420.3:c.1050T>A | XP_011535722.1:p.Phe350Leu |