Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.146549654G>C , CM000668.2:g.146549654G>C | GRCh38 |
| NC_000006.11:g.146870790G>C , CM000668.1:g.146870790G>C | GRCh37 |
| NC_000006.10:g.146912483G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367495.4:c.441G>C MANE Select | ENSP00000356465.3:p.Gln147His | |
| ENST00000367495.3:c.441G>C | ENSP00000356465.3:p.Gln147His | |
| NM_006834.3:c.441G>C | NP_006825.1:p.Gln147His | |
| NM_006834.4:c.441G>C | NP_006825.1:p.Gln147His | |
| NM_006834.5:c.441G>C MANE Select | NP_006825.1:p.Gln147His |