Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710005G= , CM000681.2:g.6710005G= | GRCh38 |
| NC_000019.9:g.6710016G= , CM000681.1:g.6710016G= | GRCh37 |
| NC_000019.8:g.6661016G= | NCBI36 |
| NG_009557.1:g.15647C= , LRG_27:g.15647C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-163C= | ENSP00000512083.1:n.1564-163C= | |
| ENST00000695654.1:c.811-163C= | ENSP00000512085.1:n.811-163C= | |
| ENST00000695655.1:c.592-127C= | ENSP00000512086.1:n.592-127C= | |
| ENST00000695692.1:n.1051-163C= | ||
| ENST00000245907.11:c.1687-163C= MANE Select | ENSP00000245907.4:n.1687-163C= | |
| ENST00000245907.10:c.1687-163C= | ENSP00000245907.4:n.1687-163C= | |
| ENST00000600763.1:n.320-163C= | ||
| NM_000064.3:c.1687-163C= | NP_000055.2:n.1687-163C= | |
| NM_000064.4:c.1687-163C= MANE Select | NP_000055.2:n.1687-163C= |