Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811860T>A , CM000669.2:g.155811860T>A | GRCh38 |
| NC_000007.13:g.155604554T>A , CM000669.1:g.155604554T>A | GRCh37 |
| NC_000007.12:g.155297315T>A | NCBI36 |
| NG_007504.2:g.5414A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297261.7:c.263A>T MANE Select | ENSP00000297261.2:p.Asp88Val | |
| ENST00000297261.6:c.263A>T | ENSP00000297261.2:p.Asp88Val | |
| NM_000193.2:c.263A>T | NP_000184.1:p.Asp88Val | |
| NM_000193.3:c.263A>T | NP_000184.1:p.Asp88Val | |
| NM_000193.4:c.263A>T MANE Select | NP_000184.1:p.Asp88Val |