Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047795C>A , CM000682.2:g.23047795C>A | GRCh38 |
| NC_000020.10:g.23028432C>A , CM000682.1:g.23028432C>A | GRCh37 |
| NC_000020.9:g.22976432C>A | NCBI36 |
| NG_012027.1:g.6870G>T , LRG_168:g.6870G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1710G>T MANE Select | ENSP00000366307.2:p.Arg570= | |
| ENST00000377103.2:c.1710G>T | ENSP00000366307.2:p.Arg570= | |
| NM_000361.2:c.1710G>T , LRG_168t1:c.1710G>T | NP_000352.1:p.Arg570= | |
| NM_000361.3:c.1710G>T MANE Select | NP_000352.1:p.Arg570= |