Linked Data
dbSNP Id:
rs1349046437
gnomAD v2:
2-47604325-A-G
gnomAD v3:
2-47377186-A-G
gnomAD v4:
2-47377186-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377186A>G , CM000664.2:g.47377186A>G | GRCh38 |
| NC_000002.11:g.47604325A>G , CM000664.1:g.47604325A>G | GRCh37 |
| NC_000002.10:g.47457829A>G | NCBI36 |
| NG_012352.2:g.37024A>G , LRG_215:g.37024A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.555+109A>G MANE Select | ENSP00000263735.4:n.555+109A>G | |
| ENST00000263735.8:c.555+109A>G | ENSP00000263735.4:n.555+109A>G | |
| ENST00000405271.5:c.639+109A>G | ENSP00000385476.1:n.639+109A>G | |
| ENST00000456133.5:c.639+109A>G | ENSP00000410675.1:n.639+109A>G | |
| ENST00000490733.1:n.404+109A>G | ||
| NM_002354.2:c.555+109A>G , LRG_215t1:c.555+109A>G | NP_002345.2:n.555+109A>G | |
| NM_002354.3:c.555+109A>G MANE Select | NP_002345.2:n.555+109A>G |