Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611655T>G , CM000672.2:g.97611655T>G | GRCh38 |
| NC_000010.10:g.99371412T>G , CM000672.1:g.99371412T>G | GRCh37 |
| NC_000010.9:g.99361402T>G | NCBI36 |
| NG_027922.1:g.32311T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.980T>G MANE Select | ENSP00000359680.4:p.Leu327Arg | |
| ENST00000370646.8:c.980T>G | ENSP00000359680.4:p.Leu327Arg | |
| ENST00000370647.8:c.491T>G | ENSP00000359681.4:p.Leu164Arg | |
| ENST00000370649.3:c.345+9665T>G | ENSP00000359683.3:n.345+9665T>G | |
| NM_001134670.1:c.491T>G | NP_001128142.1:p.Leu164Arg | |
| NM_138413.3:c.980T>G | NP_612422.2:p.Leu327Arg | |
| NM_138413.4:c.980T>G MANE Select | NP_612422.2:p.Leu327Arg | |
| NM_001134670.2:c.491T>G | NP_001128142.1:p.Leu164Arg |