Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56962023C>G , CM000678.2:g.56962023C>G | GRCh38 |
| NC_000016.9:g.56995935C>G , CM000678.1:g.56995935C>G | GRCh37 |
| NC_000016.8:g.55553436C>G | NCBI36 |
| NG_008952.1:g.5101C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.44C>G MANE Select | NP_000069.2:p.Ala15Gly |
| ENST00000200676.8:c.44C>G MANE Select | ENSP00000200676.3:p.Ala15Gly |
| NM_000078.2:c.44C>G | NP_000069.2:p.Ala15Gly |
| NM_001286085.1:c.44C>G | NP_001273014.1:p.Ala15Gly |
| NM_001286085.2:c.44C>G | NP_001273014.1:p.Ala15Gly |
| ENST00000200676.7:c.44C>G | ENSP00000200676.3:p.Ala15Gly |
| ENST00000379780.6:c.44C>G | ENSP00000369106.2:p.Ala15Gly |
| ENST00000569082.1:n.42C>G | |
| XM_006721124.2:c.44C>G | XP_006721187.1:p.Ala15Gly |
| XM_006721124.3:c.44C>G | XP_006721187.1:p.Ala15Gly |