Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713227T= , CM000681.2:g.6713227T= | GRCh38 |
| NC_000019.9:g.6713238T= , CM000681.1:g.6713238T= | GRCh37 |
| NC_000019.8:g.6664238T= | NCBI36 |
| NG_009557.1:g.12425A= , LRG_27:g.12425A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.842A= | ENSP00000512083.1:p.Lys281= | |
| ENST00000695654.1:c.89A= | ENSP00000512085.1:p.Lys30= | |
| ENST00000695692.1:n.289A= | ||
| ENST00000245907.11:c.965A= MANE Select | ENSP00000245907.4:p.Lys322= | |
| ENST00000245907.10:c.965A= | ENSP00000245907.4:p.Lys322= | |
| ENST00000594270.5:n.89A= | ||
| ENST00000595577.1:n.469A= | ||
| ENST00000597442.5:n.215A= | ||
| NM_000064.3:c.965A= | NP_000055.2:p.Lys322= | |
| NM_000064.4:c.965A= MANE Select | NP_000055.2:p.Lys322= |