Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812055G>T , CM000669.2:g.155812055G>T | GRCh38 |
| NC_000007.13:g.155604749G>T , CM000669.1:g.155604749G>T | GRCh37 |
| NC_000007.12:g.155297510G>T | NCBI36 |
| NG_007504.2:g.5219C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.68C>A MANE Select | ENSP00000297261.2:p.Ala23Glu | |
| ENST00000297261.6:c.68C>A | ENSP00000297261.2:p.Ala23Glu | |
| NM_000193.2:c.68C>A | NP_000184.1:p.Ala23Glu | |
| NM_000193.3:c.68C>A | NP_000184.1:p.Ala23Glu | |
| NM_000193.4:c.68C>A MANE Select | NP_000184.1:p.Ala23Glu |