Linked Data
ClinVar Variation Id:
1384289
ClinVar RCV Id:
RCV001895884
dbSNP Id:
rs369436814
ExAC:
4:56290813 A / G
gnomAD v2:
4-56290813-A-G
gnomAD v3:
4-55424646-A-G
gnomAD v4:
4-55424646-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55424646A>G , CM000666.2:g.55424646A>G | GRCh38 |
| NC_000004.11:g.56290813A>G , CM000666.1:g.56290813A>G | GRCh37 |
| NC_000004.10:g.55985570A>G | NCBI36 |
| NG_032881.1:g.33734A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.898+3A>G MANE Select | ENSP00000370736.5:n.898+3A>G | |
| ENST00000381334.9:c.898+3A>G | ENSP00000370736.5:n.898+3A>G | |
| ENST00000506103.2:c.352+3A>G | ||
| ENST00000506198.5:c.313+3A>G | ENSP00000425449.1:n.313+3A>G | |
| ENST00000508404.5:c.*770+3A>G | ENSP00000422639.1:n.*770+3A>G | |
| ENST00000508561.5:n.594+3A>G | ||
| ENST00000509575.1:n.404A>G | ||
| ENST00000514904.5:n.1352+3A>G | ||
| ENST00000515591.1:n.1530+3A>G | ||
| ENST00000608091.1:c.408+3A>G | ||
| NM_018475.4:c.898+3A>G | NP_060945.2:n.898+3A>G | |
| NR_073070.1:n.1278+3A>G | ||
| XM_011534394.1:c.898+3A>G | XP_011532696.1:n.898+3A>G | |
| XM_011534394.3:c.898+3A>G | XP_011532696.1:n.898+3A>G | |
| XM_017008412.1:c.709+3A>G | XP_016863901.1:n.709+3A>G | |
| XR_001741287.2:n.1614+3A>G | ||
| NM_018475.5:c.898+3A>G MANE Select | NP_060945.2:n.898+3A>G | |
| NR_073070.2:n.1234+3A>G |