Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709879C= , CM000681.2:g.6709879C= | GRCh38 |
| NC_000019.9:g.6709890C= , CM000681.1:g.6709890C= | GRCh37 |
| NC_000019.8:g.6660890C= | NCBI36 |
| NG_009557.1:g.15773G= , LRG_27:g.15773G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-37G= | ENSP00000512083.1:n.1564-37G= | |
| ENST00000695654.1:c.811-37G= | ENSP00000512085.1:n.811-37G= | |
| ENST00000695655.1:c.592-1G= | ENSP00000512086.1:n.592-1G= | |
| ENST00000695692.1:n.1051-37G= | ||
| ENST00000245907.11:c.1687-37G= MANE Select | ENSP00000245907.4:n.1687-37G= | |
| ENST00000245907.10:c.1687-37G= | ENSP00000245907.4:n.1687-37G= | |
| ENST00000600763.1:n.320-37G= | ||
| NM_000064.3:c.1687-37G= | NP_000055.2:n.1687-37G= | |
| NM_000064.4:c.1687-37G= MANE Select | NP_000055.2:n.1687-37G= |