Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84443330C>T , CM000664.2:g.84443330C>T | GRCh38 |
| NC_000002.11:g.84670454C>T , CM000664.1:g.84670454C>T | GRCh37 |
| NC_000002.10:g.84523965C>T | NCBI36 |
| NG_016755.1:g.21133G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.272G>A MANE Select | NP_003840.2:p.Gly91Glu |
| ENST00000393868.7:c.272G>A MANE Select | ENSP00000377446.2:p.Gly91Glu |
| NM_003849.3:c.272G>A | NP_003840.2:p.Gly91Glu |
| ENST00000393868.6:c.272G>A | ENSP00000377446.2:p.Gly91Glu |
| ENST00000430989.1:n.249G>A | |
| ENST00000442240.5:c.283G>A | |
| ENST00000483605.5:n.351G>A | |
| ENST00000491642.5:n.444G>A | |
| ENST00000651342.1:c.272G>A | ENSP00000498471.1:p.Gly91Glu |