Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709720G>C , CM000681.2:g.6709720G>C | GRCh38 |
| NC_000019.9:g.6709731G>C , CM000681.1:g.6709731G>C | GRCh37 |
| NC_000019.8:g.6660731G>C | NCBI36 |
| NG_009557.1:g.15932C>G , LRG_27:g.15932C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1686C>G | ENSP00000512083.1:p.Phe562Leu | |
| ENST00000695654.1:c.933C>G | ENSP00000512085.1:p.Phe311Leu | |
| ENST00000695655.1:c.750C>G | ENSP00000512086.1:n.750C>G | |
| ENST00000695692.1:n.1173C>G | ||
| ENST00000245907.11:c.1809C>G MANE Select | ENSP00000245907.4:p.Phe603Leu | |
| ENST00000245907.10:c.1809C>G | ENSP00000245907.4:p.Phe603Leu | |
| NM_000064.3:c.1809C>G | NP_000055.2:p.Phe603Leu | |
| NM_000064.4:c.1809C>G MANE Select | NP_000055.2:p.Phe603Leu |