Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047966C= , CM000682.2:g.23047966C= | GRCh38 |
| NC_000020.10:g.23028603C= , CM000682.1:g.23028603C= | GRCh37 |
| NC_000020.9:g.22976603C= | NCBI36 |
| NG_012027.1:g.6699G= , LRG_168:g.6699G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1539G= MANE Select | ENSP00000366307.2:p.Val513= | |
| ENST00000377103.2:c.1539G= | ENSP00000366307.2:p.Val513= | |
| NM_000361.2:c.1539G= , LRG_168t1:c.1539G= | NP_000352.1:p.Val513= | |
| NM_000361.3:c.1539G= MANE Select | NP_000352.1:p.Val513= |