Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205744250G= , CM000663.2:g.205744250G= | GRCh38 |
| NC_000001.10:g.205713378G= , CM000663.1:g.205713378G= | GRCh37 |
| NC_000001.9:g.203980001G= | NCBI36 |
| NG_027548.1:g.10995C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367142.5:c.17+5707C= MANE Select | ENSP00000356110.4:n.17+5707C= | |
| ENST00000367142.4:c.17+5707C= | ENSP00000356110.4:n.17+5707C= | |
| NM_022731.4:c.17+5707C= | NP_073568.2:n.17+5707C= | |
| XM_005245453.1:c.17+5707C= | XP_005245510.1:n.17+5707C= | |
| NM_022731.5:c.17+5707C= MANE Select | NP_073568.2:n.17+5707C= |