Linked Data
ClinVar Variation Id:
529408
dbSNP Id:
rs774098604
ExAC:
2:73646246 T / G
gnomAD v2:
2-73646246-T-G
gnomAD v3:
2-73419118-T-G
gnomAD v4:
2-73419118-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73419118T>G , CM000664.2:g.73419118T>G | GRCh38 |
| NC_000002.11:g.73646246T>G , CM000664.1:g.73646246T>G | GRCh37 |
| NC_000002.10:g.73499754T>G | NCBI36 |
| NG_011690.1:g.38364T>G , LRG_741:g.38364T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682675.1:n.411-5T>G | ||
| ENST00000682889.1:n.416-5T>G | ||
| ENST00000684148.1:n.197-5T>G | ||
| ENST00000613296.6:c.451-5T>G MANE Select | ENSP00000482968.1:n.451-5T>G | |
| ENST00000484298.5:c.325-5T>G | ENSP00000478155.1:n.325-5T>G | |
| ENST00000613296.4:c.451-5T>G | ENSP00000482968.1:n.451-5T>G | |
| ENST00000614410.4:c.451-5T>G | ENSP00000479094.1:n.451-5T>G | |
| NM_015120.4:c.454-5T>G , LRG_741t1:c.454-5T>G | NP_055935.4:n.454-5T>G | |
| NM_001378454.1:c.451-5T>G MANE Select | NP_001365383.1:n.451-5T>G |