Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014373C>T , CM000664.2:g.178014373C>T | GRCh38 |
| NC_000002.11:g.178879100C>T , CM000664.1:g.178879100C>T | GRCh37 |
| NC_000002.10:g.178587346C>T | NCBI36 |
| NG_012168.1:g.98967G>A | |
| NG_012168.2:g.98967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.1000G>A MANE Select | ENSP00000286063.5:p.Glu334Lys | |
| ENST00000286063.10:c.1000G>A | ENSP00000286063.5:p.Glu334Lys | |
| ENST00000358450.8:c.250G>A | ENSP00000351232.4:p.Glu84Lys | |
| NM_001077197.1:c.250G>A | NP_001070665.1:p.Glu84Lys | |
| NM_016953.3:c.1000G>A | NP_058649.3:p.Glu334Lys | |
| NM_016953.4:c.1000G>A MANE Select | NP_058649.3:p.Glu334Lys | |
| NM_001077197.2:c.250G>A | NP_001070665.1:p.Glu84Lys |