Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23049232C= , CM000682.2:g.23049232C= | GRCh38 |
| NC_000020.10:g.23029869C= , CM000682.1:g.23029869C= | GRCh37 |
| NC_000020.9:g.22977869C= | NCBI36 |
| NG_012027.1:g.5433G= , LRG_168:g.5433G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.273G= MANE Select | ENSP00000366307.2:p.Gln91= | |
| ENST00000377103.2:c.273G= | ENSP00000366307.2:p.Gln91= | |
| NM_000361.2:c.273G= , LRG_168t1:c.273G= | NP_000352.1:p.Gln91= | |
| NM_000361.3:c.273G= MANE Select | NP_000352.1:p.Gln91= |