Linked Data
dbSNP Id:
rs200201103
ExAC:
20:42089301 A / G
gnomAD v2:
20-42089301-A-G
gnomAD v3:
20-43460661-A-G
gnomAD v4:
20-43460661-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43460661A>G , CM000682.2:g.43460661A>G | GRCh38 |
| NC_000020.10:g.42089301A>G , CM000682.1:g.42089301A>G | GRCh37 |
| NC_000020.9:g.41522715A>G | NCBI36 |
| NG_029906.1:g.7798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244020.5:c.675-42A>G MANE Select | ENSP00000244020.3:n.675-42A>G | |
| ENST00000657241.1:c.654+63A>G | ||
| ENST00000662078.1:c.674+63A>G | ENSP00000499666.1:n.674+63A>G | |
| ENST00000668808.1:c.675-42A>G | ENSP00000499517.1:n.675-42A>G | |
| ENST00000670741.1:c.674+63A>G | ENSP00000499492.1:n.674+63A>G | |
| ENST00000671022.1:n.765-42A>G | ||
| ENST00000244020.4:c.675-42A>G | ENSP00000244020.3:n.675-42A>G | |
| ENST00000483871.6:c.*535-42A>G | ENSP00000433544.1:n.*535-42A>G | |
| NM_006275.5:c.675-42A>G | NP_006266.2:n.675-42A>G | |
| NR_034009.1:n.1113-42A>G | ||
| XR_936608.1:n.1434-42A>G | ||
| XR_936608.2:n.1434-42A>G | ||
| NM_006275.6:c.675-42A>G MANE Select | NP_006266.2:n.675-42A>G | |
| NR_034009.2:n.1081-42A>G |