Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492670C>T , CM000674.2:g.52492670C>T | GRCh38 |
| NC_000012.11:g.52886454C>T , CM000674.1:g.52886454C>T | GRCh37 |
| NC_000012.10:g.51172721C>T | NCBI36 |
| NG_008298.1:g.5728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.519G>A MANE Select | ENSP00000369317.3:p.Lys173= | |
| ENST00000330722.6:c.519G>A | ENSP00000369317.3:p.Lys173= | |
| ENST00000549898.5:n.40G>A | ||
| NM_005554.3:c.519G>A | NP_005545.1:p.Lys173= | |
| NM_005554.4:c.519G>A MANE Select | NP_005545.1:p.Lys173= |