Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178931720G>A , CM000667.2:g.178931720G>A | GRCh38 |
| NC_000005.9:g.178358721G>A , CM000667.1:g.178358721G>A | GRCh37 |
| NC_000005.8:g.178291327G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030613.4:c.407G>A MANE Select | NP_085116.2:p.Gly136Glu |
| ENST00000361362.7:c.407G>A MANE Select | ENSP00000354453.2:p.Gly136Glu |
| NM_030613.2:c.407G>A | NP_085116.2:p.Gly136Glu |
| NM_030613.3:c.407G>A | NP_085116.2:p.Gly136Glu |
| ENST00000361362.6:c.407G>A | ENSP00000354453.2:p.Gly136Glu |
| ENST00000520301.5:c.407G>A | ENSP00000430980.1:p.Gly136Glu |
| ENST00000523286.1:c.407G>A | ENSP00000430531.1:p.Gly136Glu |