Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193039C>A , CM000685.2:g.50193039C>A | GRCh38 |
| NC_000023.10:g.49957690C>A , CM000685.1:g.49957690C>A | GRCh37 |
| NC_000023.9:g.49844430C>A | NCBI36 |
| NG_012552.1:g.12975G>T | |
| NG_012552.2:g.12975G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1674G>T MANE Select | ENSP00000351327.2:p.Gln558His | |
| ENST00000358526.6:c.1674G>T | ENSP00000351327.2:p.Gln558His | |
| ENST00000376064.7:c.1647G>T | ENSP00000365232.3:p.Gln549His | |
| ENST00000448865.5:c.542-17G>T | ENSP00000402403.1:n.542-17G>T | |
| ENST00000481402.5:n.1786G>T | ||
| NM_003886.2:c.1674G>T | NP_003877.2:p.Gln558His | |
| NM_139289.1:c.1647G>T | NP_647450.1:p.Gln549His | |
| NM_003886.3:c.1674G>T MANE Select | NP_003877.2:p.Gln558His | |
| NM_139289.2:c.1647G>T | NP_647450.1:p.Gln549His |