Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709754C= , CM000681.2:g.6709754C= | GRCh38 |
| NC_000019.9:g.6709765C= , CM000681.1:g.6709765C= | GRCh37 |
| NC_000019.8:g.6660765C= | NCBI36 |
| NG_009557.1:g.15898G= , LRG_27:g.15898G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1775G= MANE Select | NP_000055.2:p.Arg592= |
| ENST00000245907.11:c.1775G= MANE Select | ENSP00000245907.4:p.Arg592= |
| NM_000064.3:c.1775G= | NP_000055.2:p.Arg592= |
| ENST00000245907.10:c.1775G= | ENSP00000245907.4:p.Arg592= |
| ENST00000695652.1:c.1652G= | ENSP00000512083.1:p.Arg551= |
| ENST00000695654.1:c.899G= | ENSP00000512085.1:p.Arg300= |
| ENST00000695655.1:c.716G= | ENSP00000512086.1:n.716G= |
| ENST00000695692.1:n.1139G= |