Linked Data
dbSNP Id:
rs955886913
gnomAD v2:
20-1610991-A-C
gnomAD v3:
20-1630345-A-C
gnomAD v4:
20-1630345-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1630345A>C , CM000682.2:g.1630345A>C | GRCh38 |
| NC_000020.10:g.1610991A>C , CM000682.1:g.1610991A>C | GRCh37 |
| NC_000020.9:g.1558991A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216927.4:c.749-39T>G | ENSP00000216927.4:n.749-39T>G | |
| ENST00000303415.7:c.1082-39T>G MANE Select | ENSP00000305529.3:n.1082-39T>G | |
| ENST00000344103.8:c.431-39T>G | ENSP00000342759.4:n.431-39T>G | |
| ENST00000381580.5:c.983-39T>G | ENSP00000370992.1:n.983-39T>G | |
| ENST00000381583.6:c.749-39T>G | ENSP00000370995.2:n.749-39T>G | |
| ENST00000478145.6:n.143-39T>G | ||
| ENST00000497407.2:n.231-39T>G | ||
| NM_001039508.1:c.749-39T>G | NP_001034597.1:n.749-39T>G | |
| NM_018556.3:c.1082-39T>G | NP_061026.2:n.1082-39T>G | |
| NM_080816.2:c.431-39T>G | NP_543006.2:n.431-39T>G | |
| XM_005260749.2:c.764-39T>G | XP_005260806.1:n.764-39T>G | |
| XM_011529286.1:c.983-39T>G | XP_011527588.1:n.983-39T>G | |
| XM_005260749.4:c.764-39T>G | XP_005260806.1:n.764-39T>G | |
| XM_011529286.2:c.983-39T>G | XP_011527588.1:n.983-39T>G | |
| NM_018556.4:c.1082-39T>G MANE Select | NP_061026.2:n.1082-39T>G | |
| NM_080816.3:c.431-39T>G | NP_543006.2:n.431-39T>G | |
| NM_001039508.2:c.749-39T>G | NP_001034597.1:n.749-39T>G |