Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713187A= , CM000681.2:g.6713187A= | GRCh38 |
| NC_000019.9:g.6713198A= , CM000681.1:g.6713198A= | GRCh37 |
| NC_000019.8:g.6664198A= | NCBI36 |
| NG_009557.1:g.12465T= , LRG_27:g.12465T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695652.1:c.880+2T= | ENSP00000512083.1:n.880+2T= | |
| ENST00000695654.1:c.127+2T= | ENSP00000512085.1:n.127+2T= | |
| ENST00000695692.1:n.327+2T= | ||
| ENST00000245907.11:c.1003+2T= MANE Select | ENSP00000245907.4:n.1003+2T= | |
| ENST00000245907.10:c.1003+2T= | ENSP00000245907.4:n.1003+2T= | |
| ENST00000594270.5:n.127+2T= | ||
| ENST00000595577.1:n.507+2T= | ||
| ENST00000597442.5:n.253+2T= | ||
| NM_000064.3:c.1003+2T= | NP_000055.2:n.1003+2T= | |
| NM_000064.4:c.1003+2T= MANE Select | NP_000055.2:n.1003+2T= |