Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8089920C>G , CM000673.2:g.8089920C>G | GRCh38 |
| NC_000011.9:g.8111467C>G , CM000673.1:g.8111467C>G | GRCh37 |
| NC_000011.8:g.8068043C>G | NCBI36 |
| NG_029912.1:g.56288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.91-149C>G MANE Select | ENSP00000299506.3:n.91-149C>G | |
| ENST00000299506.2:c.91-149C>G | ENSP00000299506.2:n.91-149C>G | |
| ENST00000305253.8:c.256-149C>G | ENSP00000305426.4:n.256-149C>G | |
| ENST00000534099.5:c.109-149C>G | ENSP00000434400.1:n.109-149C>G | |
| NM_003320.4:c.256-149C>G | NP_003311.2:n.256-149C>G | |
| NM_177972.2:c.91-149C>G | NP_813977.1:n.91-149C>G | |
| XM_005253109.2:c.217-149C>G | XP_005253166.1:n.217-149C>G | |
| XM_011520344.1:c.127-149C>G | XP_011518646.1:n.127-149C>G | |
| XM_005253109.3:c.217-149C>G | XP_005253166.1:n.217-149C>G | |
| XM_011520344.2:c.127-149C>G | XP_011518646.1:n.127-149C>G | |
| NM_177972.3:c.91-149C>G MANE Select | NP_813977.1:n.91-149C>G | |
| NM_003320.5:c.256-149C>G | NP_003311.2:n.256-149C>G |