ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131672088C>T , CM000667.2:g.131672088C>T | GRCh38 |
| NC_000005.9:g.131007781C>T , CM000667.1:g.131007781C>T | GRCh37 |
| NC_000005.8:g.131035680C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510461.6:c.2356G>A MANE Select | ENSP00000421985.1:p.Glu786Lys | |
| ENST00000307954.12:c.2221G>A | ENSP00000310453.8:p.Glu741Lys | |
| ENST00000307968.11:c.2272G>A | ENSP00000309266.7:p.Glu758Lys | |
| ENST00000510461.5:c.2356G>A | ENSP00000421985.1:p.Glu786Lys | |
| ENST00000514667.1:c.220-67395G>A | ENSP00000426948.1:n.220-67395G>A | |
| ENST00000615660.4:c.1612G>A | ENSP00000480650.1:p.Glu538Lys | |
| NM_001008738.2:c.2272G>A | NP_001008738.2:p.Glu758Lys | |
| NM_133372.2:c.2356G>A | NP_588613.2:p.Glu786Lys | |
| NM_001346114.1:c.2221G>A | NP_001333043.1:p.Glu741Lys | |
| NM_133372.3:c.2356G>A MANE Select | NP_588613.3:p.Glu786Lys | |
| NM_001008738.3:c.2272G>A | NP_001008738.3:p.Glu758Lys | |
| NM_001346114.2:c.2221G>A | NP_001333043.1:p.Glu741Lys |