Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28878675G>A , CM000678.2:g.28878675G>A | GRCh38 |
| NC_000016.9:g.28889996G>A , CM000678.1:g.28889996G>A | GRCh37 |
| NC_000016.8:g.28797497G>A | NCBI36 |
| NG_023327.1:g.5188G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004320.6:c.4G>A MANE Select | NP_004311.1:p.Glu2Lys |
| ENST00000395503.9:c.4G>A MANE Select | ENSP00000378879.5:p.Glu2Lys |
| NM_004320.4:c.4G>A | NP_004311.1:p.Glu2Lys |
| NM_173201.3:c.4G>A | NP_775293.1:p.Glu2Lys |
| NM_173201.4:c.4G>A | NP_775293.1:p.Glu2Lys |
| NM_173201.5:c.4G>A | NP_775293.1:p.Glu2Lys |
| ENST00000357084.7:c.4G>A | ENSP00000349595.3:p.Glu2Lys |
| ENST00000395503.8:c.4G>A | ENSP00000378879.4:p.Glu2Lys |