Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048088C>T , CM000682.2:g.23048088C>T | GRCh38 |
| NC_000020.10:g.23028725C>T , CM000682.1:g.23028725C>T | GRCh37 |
| NC_000020.9:g.22976725C>T | NCBI36 |
| NG_012027.1:g.6577G>A , LRG_168:g.6577G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1417G>A MANE Select | ENSP00000366307.2:p.Ala473Thr | |
| ENST00000377103.2:c.1417G>A | ENSP00000366307.2:p.Ala473Thr | |
| NM_000361.2:c.1417G>A , LRG_168t1:c.1417G>A | NP_000352.1:p.Ala473Thr | |
| NM_000361.3:c.1417G>A MANE Select | NP_000352.1:p.Ala473Thr |