Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568082C>G , CM000678.2:g.86568082C>G | GRCh38 |
| NC_000016.9:g.86601688C>G , CM000678.1:g.86601688C>G | GRCh37 |
| NC_000016.8:g.85159189C>G | NCBI36 |
| NG_012025.1:g.5832C>G | |
| NG_012025.2:g.6254C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.747C>G MANE Select | ENSP00000497759.1:p.Ala249= | |
| ENST00000320354.5:c.747C>G | ENSP00000326371.4:p.Ala249= | |
| NM_005251.2:c.747C>G | NP_005242.1:p.Ala249= | |
| NM_005251.3:c.747C>G MANE Select | NP_005242.1:p.Ala249= |