Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347446C>T , CM000674.2:g.76347446C>T | GRCh38 |
| NC_000012.11:g.76741226C>T , CM000674.1:g.76741226C>T | GRCh37 |
| NC_000012.10:g.75265357C>T | NCBI36 |
| NG_016357.1:g.5997G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024685.4:c.539G>A MANE Select | NP_078961.3:p.Gly180Glu |
| ENST00000650064.2:c.539G>A MANE Select | ENSP00000497413.1:p.Gly180Glu |
| NM_024685.3:c.539G>A | NP_078961.3:p.Gly180Glu |
| ENST00000393262.3:c.539G>A | ENSP00000376946.3:p.Gly180Glu |