Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206110067C= , CM000663.2:g.206110067C= | GRCh38 |
| NC_000001.10:g.206231264G= , CM000663.1:g.206231264G= | GRCh37 |
| NC_000001.9:g.204397887G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367126.5:c.*122G= MANE Select | ENSP00000356094.4:n.*122G= | |
| ENST00000367126.4:c.*122G= | ENSP00000356094.4:n.*122G= | |
| ENST00000612906.1:n.493G= | ||
| NM_000707.3:c.*122G= | NP_000698.1:n.*122G= | |
| NM_000707.4:c.*122G= | NP_000698.1:n.*122G= | |
| NM_000707.5:c.*122G= MANE Select | NP_000698.1:n.*122G= |