Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993217C>A , CM000678.2:g.30993217C>A | GRCh38 |
| NC_000016.9:g.31004538C>A , CM000678.1:g.31004538C>A | GRCh37 |
| NC_000016.8:g.30912039C>A | NCBI36 |
| NG_041829.1:g.22292G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.699G>T MANE Select | ENSP00000215095.5:p.Glu233Asp | |
| ENST00000565419.2:c.699G>T | ENSP00000455899.1:p.Glu233Asp | |
| ENST00000215095.9:c.699G>T | ENSP00000215095.5:p.Glu233Asp | |
| ENST00000565419.1:c.699G>T | ENSP00000455899.1:p.Glu233Asp | |
| ENST00000569638.5:c.447G>T | ENSP00000457067.1:p.Glu149Asp | |
| NM_052874.4:c.699G>T | NP_443106.1:p.Glu233Asp | |
| XM_017022893.1:c.681G>T | XP_016878382.1:p.Glu227Asp | |
| NM_052874.5:c.699G>T MANE Select | NP_443106.1:p.Glu233Asp |