Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492694T>C , CM000674.2:g.52492694T>C | GRCh38 |
| NC_000012.11:g.52886478T>C , CM000674.1:g.52886478T>C | GRCh37 |
| NC_000012.10:g.51172745T>C | NCBI36 |
| NG_008298.1:g.5704A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.495A>G MANE Select | ENSP00000369317.3:p.Glu165= | |
| ENST00000330722.6:c.495A>G | ENSP00000369317.3:p.Glu165= | |
| ENST00000549898.5:n.16A>G | ||
| NM_005554.3:c.495A>G | NP_005545.1:p.Glu165= | |
| NM_005554.4:c.495A>G MANE Select | NP_005545.1:p.Glu165= |