Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519027A>C , CM000674.2:g.52519027A>C | GRCh38 |
| NC_000012.11:g.52912811A>C , CM000674.1:g.52912811A>C | GRCh37 |
| NC_000012.10:g.51199078A>C | NCBI36 |
| NG_008297.1:g.6433T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.689T>G MANE Select | ENSP00000252242.4:p.Leu230Arg | |
| ENST00000252242.8:c.689T>G | ENSP00000252242.4:p.Leu230Arg | |
| ENST00000549420.1:c.359T>G | ENSP00000447209.1:p.Leu120Arg | |
| ENST00000551013.1:n.217T>G | ||
| ENST00000551188.5:c.91T>G | ||
| ENST00000552629.5:n.787T>G | ||
| NM_000424.3:c.689T>G | NP_000415.2:p.Leu230Arg | |
| NM_000424.4:c.689T>G MANE Select | NP_000415.2:p.Leu230Arg |