Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740661G>C , CM000666.2:g.67740661G>C | GRCh38 |
| NC_000004.11:g.68606379G>C , CM000666.1:g.68606379G>C | GRCh37 |
| NC_000004.10:g.68288974G>C | NCBI36 |
| NG_009293.1:g.20426C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.806C>G MANE Select | ENSP00000226413.5:p.Thr269Arg | |
| ENST00000226413.4:c.806C>G | ENSP00000226413.4:p.Thr269Arg | |
| ENST00000420975.2:c.678C>G | ENSP00000397561.2:p.Asp226Glu | |
| NM_000406.2:c.806C>G | NP_000397.1:p.Thr269Arg | |
| NM_001012763.1:c.678C>G | NP_001012781.1:p.Asp226Glu | |
| NM_000406.3:c.806C>G MANE Select | NP_000397.1:p.Thr269Arg | |
| NM_001012763.2:c.678C>G | NP_001012781.1:p.Asp226Glu |