Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492654C>G , CM000674.2:g.52492654C>G | GRCh38 |
| NC_000012.11:g.52886438C>G , CM000674.1:g.52886438C>G | GRCh37 |
| NC_000012.10:g.51172705C>G | NCBI36 |
| NG_008298.1:g.5744G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.535G>C MANE Select | ENSP00000369317.3:p.Asp179His | |
| ENST00000330722.6:c.535G>C | ENSP00000369317.3:p.Asp179His | |
| ENST00000549898.5:n.56G>C | ||
| NM_005554.3:c.535G>C | NP_005545.1:p.Asp179His | |
| NM_005554.4:c.535G>C MANE Select | NP_005545.1:p.Asp179His |