Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70445449G>A , CM000685.2:g.70445449G>A | GRCh38 |
| NC_000023.10:g.69665299G>A , CM000685.1:g.69665299G>A | GRCh37 |
| NC_000023.9:g.69582024G>A | NCBI36 |
| NG_015849.1:g.5595G>A | |
| NG_015849.2:g.5595G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021120.4:c.248G>A MANE Select | NP_066943.2:p.Gly83Glu |
| ENST00000374360.8:c.248G>A MANE Select | ENSP00000363480.3:p.Gly83Glu |
| NM_021120.3:c.248G>A | NP_066943.2:p.Gly83Glu |
| ENST00000194900.8:c.248G>A | ENSP00000194900.4:p.Gly83Glu |
| ENST00000374360.7:c.248G>A | ENSP00000363480.3:p.Gly83Glu |
| ENST00000463252.5:n.314G>A | |
| XM_006724625.2:c.248G>A | XP_006724688.1:p.Gly83Glu |
| XM_006724626.2:c.248G>A | XP_006724689.1:p.Gly83Glu |
| XM_011530883.1:c.248G>A | XP_011529185.1:p.Gly83Glu |