Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781113T= , CM000677.2:g.66781113T= | GRCh38 |
| NC_000015.9:g.67073451T= , CM000677.1:g.67073451T= | GRCh37 |
| NC_000015.8:g.64860505T= | NCBI36 |
| NG_012244.1:g.83778T= | |
| NG_012244.2:g.83778T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.1069T= MANE Select | NP_005576.3:p.Phe357= |
| ENST00000288840.10:c.1069T= MANE Select | ENSP00000288840.5:p.Phe357= |
| NM_005585.4:c.1069T= | NP_005576.3:p.Phe357= |
| NR_027654.1:n.2124T= | |
| NR_027654.2:n.2224T= | |
| ENST00000288840.9:c.1069T= | ENSP00000288840.5:p.Phe357= |
| ENST00000557916.5:c.1201T= | ENSP00000452955.1:n.1201T= |
| ENST00000559931.5:c.373T= | ENSP00000453446.1:n.373T= |
| XM_011521561.1:c.286T= | XP_011519863.1:p.Phe96= |
| XM_011521561.2:c.286T= | XP_011519863.1:p.Phe96= |
| XR_931825.1:n.2468T= |