Linked Data
ClinVar Variation Id:
385385
dbSNP Id:
rs376868416
ExAC:
2:202493943 T / C
gnomAD v2:
2-202493943-T-C
gnomAD v3:
2-201629220-T-C
gnomAD v4:
2-201629220-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201629220T>C , CM000664.2:g.201629220T>C | GRCh38 |
| NC_000002.11:g.202493943T>C , CM000664.1:g.202493943T>C | GRCh37 |
| NC_000002.10:g.202202188T>C | NCBI36 |
| NG_032049.1:g.19310A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.759+10A>G | ||
| ENST00000621467.5:c.743+10A>G | ENSP00000480508.2:n.743+10A>G | |
| ENST00000686475.1:n.809+10A>G | ||
| ENST00000409883.7:c.869+10A>G MANE Select | ENSP00000386264.2:n.869+10A>G | |
| ENST00000286196.9:c.*433+10A>G | ENSP00000286196.5:n.*433+10A>G | |
| ENST00000409444.6:c.845+10A>G | ENSP00000387203.2:n.845+10A>G | |
| ENST00000409883.6:c.869+10A>G | ENSP00000386264.2:n.869+10A>G | |
| ENST00000466641.5:n.567+10A>G | ||
| ENST00000466839.5:n.737+10A>G | ||
| ENST00000471318.5:n.191+10A>G | ||
| ENST00000621467.4:c.845+10A>G | ENSP00000480508.1:n.845+10A>G | |
| NM_001044385.2:c.869+10A>G | NP_001037850.1:n.869+10A>G | |
| NM_152388.3:c.845+10A>G | NP_689601.2:n.845+10A>G | |
| NM_001044385.3:c.869+10A>G MANE Select | NP_001037850.1:n.869+10A>G | |
| NM_152388.4:c.845+10A>G | NP_689601.2:n.845+10A>G |