Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709690C>A , CM000681.2:g.6709690C>A | GRCh38 |
| NC_000019.9:g.6709701C>A , CM000681.1:g.6709701C>A | GRCh37 |
| NC_000019.8:g.6660701C>A | NCBI36 |
| NG_009557.1:g.15962G>T , LRG_27:g.15962G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1716G>T | ENSP00000512083.1:p.Gln572His | |
| ENST00000695654.1:c.963G>T | ENSP00000512085.1:p.Gln321His | |
| ENST00000695655.1:c.780G>T | ENSP00000512086.1:n.780G>T | |
| ENST00000695692.1:n.1203G>T | ||
| ENST00000245907.11:c.1839G>T MANE Select | ENSP00000245907.4:p.Gln613His | |
| ENST00000245907.10:c.1839G>T | ENSP00000245907.4:p.Gln613His | |
| NM_000064.3:c.1839G>T | NP_000055.2:p.Gln613His | |
| NM_000064.4:c.1839G>T MANE Select | NP_000055.2:p.Gln613His |