Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709794G>T , CM000681.2:g.6709794G>T | GRCh38 |
| NC_000019.9:g.6709805G>T , CM000681.1:g.6709805G>T | GRCh37 |
| NC_000019.8:g.6660805G>T | NCBI36 |
| NG_009557.1:g.15858C>A , LRG_27:g.15858C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1612C>A | ENSP00000512083.1:p.Gln538Lys | |
| ENST00000695654.1:c.859C>A | ENSP00000512085.1:p.Gln287Lys | |
| ENST00000695655.1:c.676C>A | ENSP00000512086.1:n.676C>A | |
| ENST00000695692.1:n.1099C>A | ||
| ENST00000245907.11:c.1735C>A MANE Select | ENSP00000245907.4:p.Gln579Lys | |
| ENST00000245907.10:c.1735C>A | ENSP00000245907.4:p.Gln579Lys | |
| ENST00000600763.1:n.368C>A | ||
| NM_000064.3:c.1735C>A | NP_000055.2:p.Gln579Lys | |
| NM_000064.4:c.1735C>A MANE Select | NP_000055.2:p.Gln579Lys |