Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955382C>T , CM000673.2:g.102955382C>T | GRCh38 |
| NC_000011.9:g.102826111C>T , CM000673.1:g.102826111C>T | GRCh37 |
| NC_000011.8:g.102331321C>T | NCBI36 |
| NG_021404.1:g.5353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.232G>A MANE Select | ENSP00000260302.3:p.Glu78Lys | |
| ENST00000260302.7:c.232G>A | ENSP00000260302.3:p.Glu78Lys | |
| ENST00000340273.4:c.232G>A | ENSP00000339672.4:p.Glu78Lys | |
| ENST00000615555.4:c.232G>A | ENSP00000482883.1:p.Glu78Lys | |
| NM_002427.3:c.232G>A | NP_002418.1:p.Glu78Lys | |
| NM_002427.4:c.232G>A MANE Select | NP_002418.1:p.Glu78Lys |