Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714359G>T , CM000681.2:g.6714359G>T | GRCh38 |
| NC_000019.9:g.6714370G>T , CM000681.1:g.6714370G>T | GRCh37 |
| NC_000019.8:g.6665370G>T | NCBI36 |
| NG_009557.1:g.11293C>A , LRG_27:g.11293C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.469C>A | ENSP00000512083.1:p.Leu157Ile | |
| ENST00000245907.11:c.592C>A MANE Select | ENSP00000245907.4:p.Leu198Ile | |
| ENST00000245907.10:c.592C>A | ENSP00000245907.4:p.Leu198Ile | |
| NM_000064.3:c.592C>A | NP_000055.2:p.Leu198Ile | |
| NM_000064.4:c.592C>A MANE Select | NP_000055.2:p.Leu198Ile |