Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259502C>A , CM000667.2:g.128259502C>A | GRCh38 |
| NC_000005.9:g.127595194C>A , CM000667.1:g.127595194C>A | GRCh37 |
| NC_000005.8:g.127623093C>A | NCBI36 |
| NG_008750.1:g.283542G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8692G>T MANE Select | ENSP00000262464.4:p.Glu2898Ter | |
| ENST00000262464.8:c.8692G>T | ENSP00000262464.4:p.Glu2898Ter | |
| ENST00000508053.5:c.8692G>T | ENSP00000424571.1:p.Glu2898Ter | |
| ENST00000619499.4:c.8689G>T | ENSP00000482132.1:p.Glu2897Ter | |
| NM_001999.3:c.8692G>T | NP_001990.2:p.Glu2898Ter | |
| XM_017009228.2:c.8539G>T | XP_016864717.1:p.Glu2847Ter | |
| NM_001999.4:c.8692G>T MANE Select | NP_001990.2:p.Glu2898Ter |