Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10751457G>A , CM000673.2:g.10751457G>A | GRCh38 |
| NC_000011.9:g.10773004G>A , CM000673.1:g.10773004G>A | GRCh37 |
| NC_000011.8:g.10729580G>A | NCBI36 |
| NG_051671.1:g.5471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361367.7:c.45G>A MANE Select | ENSP00000355013.2:p.Glu15= | |
| ENST00000361367.6:c.45G>A | ENSP00000355013.2:p.Glu15= | |
| ENST00000524523.1:c.6G>A | ENSP00000431458.1:p.Glu2= | |
| NM_014633.4:c.45G>A | NP_055448.1:p.Glu15= | |
| NM_001346279.1:c.45G>A | NP_001333208.1:p.Glu15= | |
| NM_014633.5:c.45G>A MANE Select | NP_055448.1:p.Glu15= | |
| NM_001346279.2:c.45G>A | NP_001333208.1:p.Glu15= |