Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668002T= , CM000670.2:g.86668002T= | GRCh38 |
| NC_000008.10:g.87680230T= , CM000670.1:g.87680230T= | GRCh37 |
| NC_000008.9:g.87749346T= | NCBI36 |
| NG_016980.1:g.80674A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.643+17A= MANE Select | ENSP00000316605.5:n.643+17A= | |
| ENST00000681746.1:c.643+17A= | ENSP00000505959.1:n.643+17A= | |
| ENST00000320005.5:c.643+17A= | ENSP00000316605.5:n.643+17A= | |
| NM_019098.4:c.643+17A= | NP_061971.3:n.643+17A= | |
| XM_011517138.1:c.229+17A= | XP_011515440.1:n.229+17A= | |
| XM_011517138.2:c.229+17A= | XP_011515440.1:n.229+17A= | |
| NM_019098.5:c.643+17A= MANE Select | NP_061971.3:n.643+17A= |