Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713448C>T , CM000681.2:g.6713448C>T | GRCh38 |
| NC_000019.9:g.6713459C>T , CM000681.1:g.6713459C>T | GRCh37 |
| NC_000019.8:g.6664459C>T | NCBI36 |
| NG_009557.1:g.12204G>A , LRG_27:g.12204G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.835G>A MANE Select | NP_000055.2:p.Glu279Lys |
| ENST00000245907.11:c.835G>A MANE Select | ENSP00000245907.4:p.Glu279Lys |
| NM_000064.3:c.835G>A | NP_000055.2:p.Glu279Lys |
| ENST00000245907.10:c.835G>A | ENSP00000245907.4:p.Glu279Lys |
| ENST00000595577.1:n.339G>A | |
| ENST00000597442.5:n.85G>A | |
| ENST00000695652.1:c.712G>A | ENSP00000512083.1:p.Glu238Lys |
| ENST00000695692.1:n.159G>A |