Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709984A= , CM000681.2:g.6709984A= | GRCh38 |
| NC_000019.9:g.6709995A= , CM000681.1:g.6709995A= | GRCh37 |
| NC_000019.8:g.6660995A= | NCBI36 |
| NG_009557.1:g.15668T= , LRG_27:g.15668T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-142T= | ENSP00000512083.1:n.1564-142T= | |
| ENST00000695654.1:c.811-142T= | ENSP00000512085.1:n.811-142T= | |
| ENST00000695655.1:c.592-106T= | ENSP00000512086.1:n.592-106T= | |
| ENST00000695692.1:n.1051-142T= | ||
| ENST00000245907.11:c.1687-142T= MANE Select | ENSP00000245907.4:n.1687-142T= | |
| ENST00000245907.10:c.1687-142T= | ENSP00000245907.4:n.1687-142T= | |
| ENST00000600763.1:n.320-142T= | ||
| NM_000064.3:c.1687-142T= | NP_000055.2:n.1687-142T= | |
| NM_000064.4:c.1687-142T= MANE Select | NP_000055.2:n.1687-142T= |