Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421805G>C , CM000685.2:g.74421805G>C | GRCh38 |
| NC_000023.10:g.73641640G>C , CM000685.1:g.73641640G>C | GRCh37 |
| NC_000023.9:g.73558365G>C | NCBI36 |
| NG_011641.1:g.5556G>C | |
| NG_011641.2:g.5556G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.168G>C MANE Select | ENSP00000465734.1:p.Gln56His | |
| ENST00000587091.5:c.168G>C | ENSP00000465734.1:p.Gln56His | |
| NM_006517.4:c.168G>C | NP_006508.2:p.Gln56His | |
| XM_005262294.1:c.168G>C | XP_005262351.1:p.Gln56His | |
| XM_011531015.1:c.168G>C | XP_011529317.1:p.Gln56His | |
| NM_006517.5:c.168G>C MANE Select | NP_006508.2:p.Gln56His |