Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048087G>T , CM000682.2:g.23048087G>T | GRCh38 |
| NC_000020.10:g.23028724G>T , CM000682.1:g.23028724G>T | GRCh37 |
| NC_000020.9:g.22976724G>T | NCBI36 |
| NG_012027.1:g.6578C>A , LRG_168:g.6578C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1418C>A MANE Select | ENSP00000366307.2:p.Ala473Asp | |
| ENST00000377103.2:c.1418C>A | ENSP00000366307.2:p.Ala473Asp | |
| NM_000361.2:c.1418C>A , LRG_168t1:c.1418C>A | NP_000352.1:p.Ala473Asp | |
| NM_000361.3:c.1418C>A MANE Select | NP_000352.1:p.Ala473Asp |