Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130381789C>G , CM000669.2:g.130381789C>G | GRCh38 |
| NC_000007.13:g.130021630C>G , CM000669.1:g.130021630C>G | GRCh37 |
| NC_000007.12:g.129808866C>G | NCBI36 |
| NG_042276.1:g.6419C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.307C>G MANE Select | NP_001859.1:p.Gln103Glu |
| ENST00000011292.8:c.307C>G MANE Select | ENSP00000011292.3:p.Gln103Glu |
| NM_001868.3:c.307C>G | NP_001859.1:p.Gln103Glu |
| ENST00000011292.7:c.307C>G | ENSP00000011292.3:p.Gln103Glu |
| ENST00000476062.5:c.43C>G | ENSP00000419408.1:p.Gln15Glu |
| ENST00000481342.5:c.43C>G | ENSP00000420218.1:p.Gln15Glu |
| ENST00000484324.1:c.43C>G | ENSP00000419497.1:p.Gln15Glu |
| ENST00000491460.5:n.269C>G | |
| ENST00000604896.5:c.141+643C>G | ENSP00000475021.1:n.141+643C>G |