Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72022455A= , CM000674.2:g.72022455A= | GRCh38 |
| NC_000012.11:g.72416235A= , CM000674.1:g.72416235A= | GRCh37 |
| NC_000012.10:g.70702502A= | NCBI36 |
| NG_008279.1:g.88610A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.1125A= MANE Select | NP_775489.2:p.Ala375= |
| ENST00000333850.4:c.1125A= MANE Select | ENSP00000329093.3:p.Ala375= |
| NM_173353.3:c.1125A= | NP_775489.2:p.Ala375= |
| ENST00000333850.3:c.1125A= | ENSP00000329093.3:p.Ala375= |
| XM_011537899.1:c.531A= | XP_011536201.1:p.Ala177= |