Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357359C>T , CM000667.2:g.128357359C>T | GRCh38 |
| NC_000005.9:g.127693051C>T , CM000667.1:g.127693051C>T | GRCh37 |
| NC_000005.8:g.127720950C>T | NCBI36 |
| NG_008750.1:g.185685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2591G>A MANE Select | ENSP00000262464.4:p.Gly864Glu | |
| ENST00000262464.8:c.2591G>A | ENSP00000262464.4:p.Gly864Glu | |
| ENST00000508053.5:c.2591G>A | ENSP00000424571.1:p.Gly864Glu | |
| ENST00000508989.5:c.2492G>A | ENSP00000425596.1:p.Gly831Glu | |
| ENST00000619499.4:c.2588G>A | ENSP00000482132.1:p.Gly863Glu | |
| NM_001999.3:c.2591G>A | NP_001990.2:p.Gly864Glu | |
| XM_017009228.2:c.2438G>A | XP_016864717.1:p.Gly813Glu | |
| NM_001999.4:c.2591G>A MANE Select | NP_001990.2:p.Gly864Glu |