Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568798A>G , CM000678.2:g.86568798A>G | GRCh38 |
| NC_000016.9:g.86602404A>G , CM000678.1:g.86602404A>G | GRCh37 |
| NC_000016.8:g.85159905A>G | NCBI36 |
| NG_012025.1:g.6548A>G | |
| NG_012025.2:g.6970A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.1463A>G MANE Select | ENSP00000497759.1:p.Tyr488Cys | |
| ENST00000320354.5:c.1463A>G | ENSP00000326371.4:p.Tyr488Cys | |
| NM_005251.2:c.1463A>G | NP_005242.1:p.Tyr488Cys | |
| NM_005251.3:c.1463A>G MANE Select | NP_005242.1:p.Tyr488Cys |