Linked Data
ClinVar Variation Id:
304916
dbSNP Id:
rs374094218
ExAC:
11:47238031 A / G
gnomAD v2:
11-47238031-A-G
gnomAD v3:
11-47216480-A-G
gnomAD v4:
11-47216480-A-G
MyVariant Identifiers:
chr11:g.47238031A>G (hg19)
chr11:g.47238031_47238032delinsGT (hg19)
chr11:g.47216480A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47216480A>G , CM000673.2:g.47216480A>G | GRCh38 |
| NC_000011.9:g.47238031A>G , CM000673.1:g.47238031A>G | GRCh37 |
| NC_000011.8:g.47194607A>G | NCBI36 |
| NG_009365.1:g.6539A>G , LRG_467:g.6539A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.264+8A>G MANE Select | ENSP00000256996.4:n.264+8A>G | |
| ENST00000256996.8:c.264+8A>G | ENSP00000256996.3:n.264+8A>G | |
| ENST00000378600.7:c.264+8A>G | ENSP00000367863.3:n.264+8A>G | |
| ENST00000378601.7:c.264+8A>G | ENSP00000367864.3:n.264+8A>G | |
| ENST00000378603.7:c.264+8A>G | ENSP00000367866.3:n.264+8A>G | |
| ENST00000610805.4:c.*130+8A>G | ENSP00000478063.1:n.*130+8A>G | |
| ENST00000612309.4:n.1378+8A>G | ||
| ENST00000614825.4:c.264+8A>G | ENSP00000483718.1:n.264+8A>G | |
| ENST00000615695.1:n.343+8A>G | ||
| ENST00000616278.4:c.264+8A>G | ENSP00000478411.1:n.264+8A>G | |
| ENST00000617022.4:n.1361+8A>G | ||
| ENST00000622090.4:c.273+8A>G | ENSP00000479994.1:n.273+8A>G | |
| ENST00000622878.4:c.264+8A>G | ENSP00000479196.1:n.264+8A>G | |
| NM_000107.2:c.264+8A>G , LRG_467t1:c.264+8A>G | NP_000098.1:n.264+8A>G | |
| NM_001300734.1:c.264+8A>G | NP_001287663.1:n.264+8A>G | |
| XR_242780.3:n.432+8A>G | ||
| XR_242780.4:n.432+8A>G | ||
| NM_000107.3:c.264+8A>G MANE Select | NP_000098.1:n.264+8A>G | |
| NM_001300734.2:c.264+8A>G | NP_001287663.1:n.264+8A>G | |
| NM_001399874.1:c.264+8A>G | NP_001386803.1:n.264+8A>G | |
| NM_001399875.1:c.264+8A>G | NP_001386804.1:n.264+8A>G | |
| NM_001399876.1:c.264+8A>G | NP_001386805.1:n.264+8A>G | |
| NM_001399878.1:c.264+8A>G | NP_001386807.1:n.264+8A>G | |
| NR_174610.1:n.693+8A>G | ||
| NR_174611.1:n.551+8A>G |