Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345946G>A , CM000674.2:g.76345946G>A | GRCh38 |
| NC_000012.11:g.76739726G>A , CM000674.1:g.76739726G>A | GRCh37 |
| NC_000012.10:g.75263857G>A | NCBI36 |
| NG_016357.1:g.7497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2039C>T MANE Select | ENSP00000497413.1:p.Ser680Leu | |
| ENST00000393262.3:c.2039C>T | ENSP00000376946.3:p.Ser680Leu | |
| NM_024685.3:c.2039C>T | NP_078961.3:p.Ser680Leu | |
| NM_024685.4:c.2039C>T MANE Select | NP_078961.3:p.Ser680Leu |