Linked Data
ClinVar Variation Id:
2147341
ClinVar RCV Id:
RCV003077141
dbSNP Id:
rs754649492
ExAC:
1:230800352 A / G
gnomAD v2:
1-230800352-A-G
gnomAD v4:
1-230664606-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230664606A>G , CM000663.2:g.230664606A>G | GRCh38 |
| NC_000001.10:g.230800352A>G , CM000663.1:g.230800352A>G | GRCh37 |
| NC_000001.9:g.228866975A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.485+19A>G MANE Select | ENSP00000355629.4:n.485+19A>G | |
| ENST00000366668.7:c.485+19A>G | ENSP00000355628.3:n.485+19A>G | |
| ENST00000366669.8:c.485+19A>G | ENSP00000355629.4:n.485+19A>G | |
| ENST00000468893.6:c.*343+19A>G | ENSP00000476305.1:n.*343+19A>G | |
| ENST00000494371.5:n.603+19A>G | ||
| ENST00000534989.1:c.308+19A>G | ENSP00000440349.1:n.308+19A>G | |
| NM_001145036.1:c.485+19A>G | NP_001138508.1:n.485+19A>G | |
| NM_007357.2:c.485+19A>G | NP_031383.1:n.485+19A>G | |
| NM_007357.3:c.485+19A>G MANE Select | NP_031383.1:n.485+19A>G | |
| NM_001145036.2:c.485+19A>G | NP_001138508.1:n.485+19A>G |