Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206110072T= , CM000663.2:g.206110072T= | GRCh38 |
| NC_000001.10:g.206231259A= , CM000663.1:g.206231259A= | GRCh37 |
| NC_000001.9:g.204397882A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000707.5:c.*117A= MANE Select | NP_000698.1:n.*117A= |
| ENST00000367126.5:c.*117A= MANE Select | ENSP00000356094.4:n.*117A= |
| NM_000707.3:c.*117A= | NP_000698.1:n.*117A= |
| NM_000707.4:c.*117A= | NP_000698.1:n.*117A= |
| ENST00000367126.4:c.*117A= | ENSP00000356094.4:n.*117A= |
| ENST00000612906.1:n.488A= |