Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709719C>G , CM000681.2:g.6709719C>G | GRCh38 |
| NC_000019.9:g.6709730C>G , CM000681.1:g.6709730C>G | GRCh37 |
| NC_000019.8:g.6660730C>G | NCBI36 |
| NG_009557.1:g.15933G>C , LRG_27:g.15933G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1687G>C | ENSP00000512083.1:p.Val563Leu | |
| ENST00000695654.1:c.934G>C | ENSP00000512085.1:p.Val312Leu | |
| ENST00000695655.1:c.751G>C | ENSP00000512086.1:n.751G>C | |
| ENST00000695692.1:n.1174G>C | ||
| ENST00000245907.11:c.1810G>C MANE Select | ENSP00000245907.4:p.Val604Leu | |
| ENST00000245907.10:c.1810G>C | ENSP00000245907.4:p.Val604Leu | |
| NM_000064.3:c.1810G>C | NP_000055.2:p.Val604Leu | |
| NM_000064.4:c.1810G>C MANE Select | NP_000055.2:p.Val604Leu |