Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433876C>A , CM000674.2:g.52433876C>A | GRCh38 |
| NC_000012.11:g.52827660C>A , CM000674.1:g.52827660C>A | GRCh37 |
| NC_000012.10:g.51113927C>A | NCBI36 |
| NG_008403.1:g.5451G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.429G>T MANE Select | ENSP00000252245.5:p.Gln143His | |
| ENST00000252245.5:c.429G>T | ENSP00000252245.5:p.Gln143His | |
| NM_004693.2:c.429G>T | NP_004684.2:p.Gln143His | |
| NM_004693.3:c.429G>T MANE Select | NP_004684.2:p.Gln143His |