Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710006G= , CM000681.2:g.6710006G= | GRCh38 |
| NC_000019.9:g.6710017G= , CM000681.1:g.6710017G= | GRCh37 |
| NC_000019.8:g.6661017G= | NCBI36 |
| NG_009557.1:g.15646C= , LRG_27:g.15646C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-164C= | ENSP00000512083.1:n.1564-164C= | |
| ENST00000695654.1:c.811-164C= | ENSP00000512085.1:n.811-164C= | |
| ENST00000695655.1:c.592-128C= | ENSP00000512086.1:n.592-128C= | |
| ENST00000695692.1:n.1051-164C= | ||
| ENST00000245907.11:c.1687-164C= MANE Select | ENSP00000245907.4:n.1687-164C= | |
| ENST00000245907.10:c.1687-164C= | ENSP00000245907.4:n.1687-164C= | |
| ENST00000600763.1:n.320-164C= | ||
| NM_000064.3:c.1687-164C= | NP_000055.2:n.1687-164C= | |
| NM_000064.4:c.1687-164C= MANE Select | NP_000055.2:n.1687-164C= |