Linked Data
dbSNP Id:
rs945093330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174915C>G , CM000674.2:g.21174915C>G | GRCh38 |
| NC_000012.11:g.21327849C>G , CM000674.1:g.21327849C>G | GRCh37 |
| NC_000012.10:g.21219116C>G | NCBI36 |
| NG_011745.1:g.48722C>G , LRG_1022:g.48722C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.359+206C>G MANE Select | ENSP00000256958.2:n.359+206C>G | |
| ENST00000256958.2:c.359+206C>G | ENSP00000256958.2:n.359+206C>G | |
| ENST00000543498.5:c.426-1861C>G | ||
| NM_006446.4:c.359+206C>G , LRG_1022t1:c.359+206C>G | NP_006437.3:n.359+206C>G | |
| NM_006446.5:c.359+206C>G MANE Select | NP_006437.3:n.359+206C>G |