Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568503C>A , CM000678.2:g.86568503C>A | GRCh38 |
| NC_000016.9:g.86602109C>A , CM000678.1:g.86602109C>A | GRCh37 |
| NC_000016.8:g.85159610C>A | NCBI36 |
| NG_012025.1:g.6253C>A | |
| NG_012025.2:g.6675C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.1168C>A MANE Select | ENSP00000497759.1:p.Gln390Lys | |
| ENST00000320354.5:c.1168C>A | ENSP00000326371.4:p.Gln390Lys | |
| NM_005251.2:c.1168C>A | NP_005242.1:p.Gln390Lys | |
| NM_005251.3:c.1168C>A MANE Select | NP_005242.1:p.Gln390Lys |