Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47346205A= , CM000673.2:g.47346205A= | GRCh38 |
| NC_000011.9:g.47367756A= , CM000673.1:g.47367756A= | GRCh37 |
| NC_000011.8:g.47324332A= | NCBI36 |
| NG_007667.1:g.11498T= , LRG_386:g.11498T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1090+2T= MANE Select | ENSP00000442795.1:n.1090+2T= | |
| ENST00000256993.8:c.1090+2T= | ENSP00000256993.5:n.1090+2T= | |
| ENST00000399249.6:c.1090+2T= | ENSP00000382193.2:n.1090+2T= | |
| ENST00000544791.1:c.1090+2T= | ENSP00000444259.1:n.1090+2T= | |
| ENST00000545968.5:c.1090+2T= | ENSP00000442795.1:n.1090+2T= | |
| NM_000256.3:c.1090+2T= , LRG_386t1:c.1090+2T= MANE Select | NP_000247.2:n.1090+2T= | |
| XM_011520117.1:c.1072+2T= | XP_011518419.1:n.1072+2T= | |
| XM_011520118.1:c.1090+2T= | XP_011518420.1:n.1090+2T= |