Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985875G>A , CM000678.2:g.1985875G>A | GRCh38 |
| NC_000016.9:g.2035876G>A , CM000678.1:g.2035876G>A | GRCh37 |
| NC_000016.8:g.1975877G>A | NCBI36 |
| NG_016288.1:g.6727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.240G>A | ENSP00000455885.1:p.Arg80= | |
| ENST00000248114.7:c.465G>A MANE Select | ENSP00000248114.6:p.Arg155= | |
| ENST00000248114.6:c.465G>A | ENSP00000248114.6:p.Arg155= | |
| ENST00000565658.1:n.622G>A | ||
| ENST00000567719.1:c.240G>A | ENSP00000455885.1:p.Arg80= | |
| ENST00000569451.1:c.268G>A | ENSP00000456432.1:p.Glu90Lys | |
| NM_005262.2:c.465G>A | NP_005253.3:p.Arg155= | |
| NM_005262.3:c.465G>A MANE Select | NP_005253.3:p.Arg155= |