Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6011666C>A , CM000674.2:g.6011666C>A | GRCh38 |
| NC_000012.11:g.6120832C>A , CM000674.1:g.6120832C>A | GRCh37 |
| NC_000012.10:g.5991093C>A | NCBI36 |
| NG_009072.1:g.118005G>T | |
| NG_009072.2:g.118005G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.5793G>T MANE Select | NP_000543.3:p.Gln1931His |
| ENST00000261405.10:c.5793G>T MANE Select | ENSP00000261405.5:p.Gln1931His |
| NM_000552.3:c.5793G>T | NP_000543.2:p.Gln1931His |
| NM_000552.4:c.5793G>T | NP_000543.2:p.Gln1931His |
| ENST00000261405.9:c.5793G>T | ENSP00000261405.5:p.Gln1931His |
| ENST00000538635.5:n.421-17732G>T |