Linked Data
dbSNP Id:
rs780176724
ExAC:
6:39325020 A / C
gnomAD v2:
6-39325020-A-C
gnomAD v4:
6-39357244-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39357244A>C , CM000668.2:g.39357244A>C | GRCh38 |
| NC_000006.11:g.39325020A>C , CM000668.1:g.39325020A>C | GRCh37 |
| NC_000006.10:g.39432998A>C | NCBI36 |
| NG_054928.1:g.373181T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287152.12:c.2180+33T>G MANE Select | ENSP00000287152.7:n.2180+33T>G | |
| ENST00000229913.9:c.533+33T>G | ENSP00000229913.5:n.533+33T>G | |
| ENST00000287152.11:c.2180+33T>G | ENSP00000287152.7:n.2180+33T>G | |
| ENST00000394362.5:c.533+33T>G | ENSP00000377889.1:n.533+33T>G | |
| ENST00000458470.5:c.1855+33T>G | ||
| ENST00000538893.5:c.533+33T>G | ENSP00000441435.2:n.533+33T>G | |
| NM_001289020.1:c.2129+33T>G | NP_001275949.1:n.2129+33T>G | |
| NM_001289021.1:c.2012+33T>G | NP_001275950.1:n.2012+33T>G | |
| NM_001289024.1:c.533+33T>G | NP_001275953.1:n.533+33T>G | |
| NM_145027.4:c.2180+33T>G | NP_659464.3:n.2180+33T>G | |
| XM_005248904.3:c.2180+33T>G | XP_005248961.1:n.2180+33T>G | |
| XM_011514357.1:c.2180+33T>G | XP_011512659.1:n.2180+33T>G | |
| XM_011514358.1:c.2180+33T>G | XP_011512660.1:n.2180+33T>G | |
| XM_011514359.1:c.2180+33T>G | XP_011512661.1:n.2180+33T>G | |
| XM_011514360.1:c.1553+33T>G | XP_011512662.1:n.1553+33T>G | |
| NM_001289020.2:c.2129+33T>G | NP_001275949.1:n.2129+33T>G | |
| NM_001289021.2:c.2012+33T>G | NP_001275950.1:n.2012+33T>G | |
| NM_001289024.2:c.533+33T>G | NP_001275953.1:n.533+33T>G | |
| NM_001351566.1:c.533+33T>G | NP_001338495.1:n.533+33T>G | |
| NM_145027.5:c.2180+33T>G | NP_659464.3:n.2180+33T>G | |
| XM_005248904.4:c.2180+33T>G | XP_005248961.1:n.2180+33T>G | |
| XM_011514357.3:c.2180+33T>G | XP_011512659.1:n.2180+33T>G | |
| XM_011514358.3:c.2180+33T>G | XP_011512660.1:n.2180+33T>G | |
| XM_011514359.3:c.2180+33T>G | XP_011512661.1:n.2180+33T>G | |
| XM_017010427.1:c.1871+33T>G | XP_016865916.1:n.1871+33T>G | |
| XM_017010428.1:c.1535+33T>G | XP_016865917.1:n.1535+33T>G | |
| XR_001744111.1:n.75+5296A>C | ||
| NM_145027.6:c.2180+33T>G MANE Select | NP_659464.3:n.2180+33T>G | |
| NM_001289020.3:c.2129+33T>G | NP_001275949.1:n.2129+33T>G | |
| NM_001289021.3:c.2012+33T>G | NP_001275950.1:n.2012+33T>G | |
| NM_001289024.3:c.533+33T>G | NP_001275953.1:n.533+33T>G | |
| NM_001351566.2:c.533+33T>G | NP_001338495.1:n.533+33T>G |