Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713307A= , CM000681.2:g.6713307A= | GRCh38 |
| NC_000019.9:g.6713318A= , CM000681.1:g.6713318A= | GRCh37 |
| NC_000019.8:g.6664318A= | NCBI36 |
| NG_009557.1:g.12345T= , LRG_27:g.12345T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.762T= | ENSP00000512083.1:p.Asp254= | |
| ENST00000695654.1:c.9T= | ENSP00000512085.1:p.Asp3= | |
| ENST00000695692.1:n.209T= | ||
| ENST00000245907.11:c.885T= MANE Select | ENSP00000245907.4:p.Asp295= | |
| ENST00000245907.10:c.885T= | ENSP00000245907.4:p.Asp295= | |
| ENST00000594270.5:n.9T= | ||
| ENST00000595577.1:n.389T= | ||
| ENST00000597442.5:n.135T= | ||
| NM_000064.3:c.885T= | NP_000055.2:p.Asp295= | |
| NM_000064.4:c.885T= MANE Select | NP_000055.2:p.Asp295= |