Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044290A>G , CM000674.2:g.5044290A>G | GRCh38 |
| NC_000012.11:g.5153456A>G , CM000674.1:g.5153456A>G | GRCh37 |
| NC_000012.10:g.5023717A>G | NCBI36 |
| NG_012198.1:g.5372A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002234.4:c.143A>G MANE Select | NP_002225.2:p.Glu48Gly |
| ENST00000252321.5:c.143A>G MANE Select | ENSP00000252321.3:p.Glu48Gly |
| NM_002234.3:c.143A>G | NP_002225.2:p.Glu48Gly |
| ENST00000252321.4:c.143A>G | ENSP00000252321.3:p.Glu48Gly |