Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709762G>A , CM000681.2:g.6709762G>A | GRCh38 |
| NC_000019.9:g.6709773G>A , CM000681.1:g.6709773G>A | GRCh37 |
| NC_000019.8:g.6660773G>A | NCBI36 |
| NG_009557.1:g.15890C>T , LRG_27:g.15890C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1767C>T MANE Select | NP_000055.2:p.His589= |
| ENST00000245907.11:c.1767C>T MANE Select | ENSP00000245907.4:p.His589= |
| NM_000064.3:c.1767C>T | NP_000055.2:p.His589= |
| ENST00000245907.10:c.1767C>T | ENSP00000245907.4:p.His589= |
| ENST00000600763.1:n.400C>T | |
| ENST00000695652.1:c.1644C>T | ENSP00000512083.1:p.His548= |
| ENST00000695654.1:c.891C>T | ENSP00000512085.1:p.His297= |
| ENST00000695655.1:c.708C>T | ENSP00000512086.1:n.708C>T |
| ENST00000695692.1:n.1131C>T |