Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47976785T>C , CM000681.2:g.47976785T>C | GRCh38 |
| NC_000019.9:g.48480042T>C , CM000681.1:g.48480042T>C | GRCh37 |
| NC_000019.8:g.53171854T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128326.2:c.326A>G MANE Select | NP_001121798.1:p.Glu109Gly |
| ENST00000344839.3:c.326A>G MANE Select | ENSP00000341762.3:p.Glu109Gly |
| XM_005258394.3:c.350A>G | XP_005258451.1:p.Glu117Gly |
| XM_006722959.2:c.320A>G | XP_006723022.1:p.Glu107Gly |
| XM_017026118.1:c.326A>G | XP_016881607.1:p.Glu109Gly |