Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713228T>C , CM000681.2:g.6713228T>C | GRCh38 |
| NC_000019.9:g.6713239T>C , CM000681.1:g.6713239T>C | GRCh37 |
| NC_000019.8:g.6664239T>C | NCBI36 |
| NG_009557.1:g.12424A>G , LRG_27:g.12424A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.841A>G | ENSP00000512083.1:p.Lys281Glu | |
| ENST00000695654.1:c.88A>G | ENSP00000512085.1:p.Lys30Glu | |
| ENST00000695692.1:n.288A>G | ||
| ENST00000245907.11:c.964A>G MANE Select | ENSP00000245907.4:p.Lys322Glu | |
| ENST00000245907.10:c.964A>G | ENSP00000245907.4:p.Lys322Glu | |
| ENST00000594270.5:n.88A>G | ||
| ENST00000595577.1:n.468A>G | ||
| ENST00000597442.5:n.214A>G | ||
| NM_000064.3:c.964A>G | NP_000055.2:p.Lys322Glu | |
| NM_000064.4:c.964A>G MANE Select | NP_000055.2:p.Lys322Glu |