Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492649C>T , CM000674.2:g.52492649C>T | GRCh38 |
| NC_000012.11:g.52886433C>T , CM000674.1:g.52886433C>T | GRCh37 |
| NC_000012.10:g.51172700C>T | NCBI36 |
| NG_008298.1:g.5749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.540G>A MANE Select | ENSP00000369317.3:p.Lys180= | |
| ENST00000330722.6:c.540G>A | ENSP00000369317.3:p.Lys180= | |
| ENST00000549898.5:n.61G>A | ||
| NM_005554.3:c.540G>A | NP_005545.1:p.Lys180= | |
| NM_005554.4:c.540G>A MANE Select | NP_005545.1:p.Lys180= |