Linked Data
dbSNP Id:
rs9326506
gnomAD v2:
10-44068558-A-C
gnomAD v3:
10-43573110-A-C
gnomAD v4:
10-43573110-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43573110A>C , CM000672.2:g.43573110A>C | GRCh38 |
| NC_000010.10:g.44068558A>C , CM000672.1:g.44068558A>C | GRCh37 |
| NC_000010.9:g.43388564A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374446.7:c.-216+527T>G MANE Select | ENSP00000363569.1:n.-216+527T>G | |
| ENST00000374446.6:c.-216+527T>G | ENSP00000363569.1:n.-216+527T>G | |
| ENST00000426961.1:c.-216+1430T>G | ENSP00000398202.1:n.-216+1430T>G | |
| ENST00000491188.1:n.58+1430T>G | ||
| ENST00000535642.5:c.-93+1430T>G | ENSP00000443907.1:n.-93+1430T>G | |
| NM_001099282.1:c.-216+527T>G | NP_001092752.1:n.-216+527T>G | |
| NM_001099283.1:c.-93+1430T>G | NP_001092753.1:n.-93+1430T>G | |
| NM_001099284.1:c.-216+1430T>G | NP_001092754.1:n.-216+1430T>G | |
| XM_005271828.1:c.-216+527T>G | XP_005271885.1:n.-216+527T>G | |
| XM_005271829.1:c.-216+1361T>G | XP_005271886.1:n.-216+1361T>G | |
| XM_005271831.1:c.-93+1361T>G | XP_005271888.1:n.-93+1361T>G | |
| XM_006718002.1:c.-93+527T>G | XP_006718065.1:n.-93+527T>G | |
| XM_006718003.2:c.-93+928T>G | XP_006718066.1:n.-93+928T>G | |
| XM_011540233.1:c.-94+527T>G | XP_011538535.1:n.-94+527T>G | |
| XM_011540234.1:c.-94+1430T>G | XP_011538536.1:n.-94+1430T>G | |
| XM_011540235.1:c.-94+1361T>G | XP_011538537.1:n.-94+1361T>G | |
| XM_011540236.1:c.-94+928T>G | XP_011538538.1:n.-94+928T>G | |
| NM_001324347.1:c.-93+527T>G | NP_001311276.1:n.-93+527T>G | |
| NM_001324348.1:c.-93+1361T>G | NP_001311277.1:n.-93+1361T>G | |
| NM_001324349.1:c.-216+527T>G | NP_001311278.1:n.-216+527T>G | |
| NM_001324350.1:c.-93+527T>G | NP_001311279.1:n.-93+527T>G | |
| NM_001324351.1:c.-216+1361T>G | NP_001311280.1:n.-216+1361T>G | |
| NM_001324352.1:c.-94+527T>G | NP_001311281.1:n.-94+527T>G | |
| NM_001324353.1:c.15+527T>G | NP_001311282.1:n.15+527T>G | |
| XM_006718003.3:c.-93+928T>G | XP_006718066.1:n.-93+928T>G | |
| XM_011540232.3:c.-2720T>G | XP_011538534.1:n.-2720T>G | |
| XM_011540234.2:c.-94+1430T>G | XP_011538536.1:n.-94+1430T>G | |
| XM_011540235.2:c.-94+1361T>G | XP_011538537.1:n.-94+1361T>G | |
| XM_011540236.2:c.-94+928T>G | XP_011538538.1:n.-94+928T>G | |
| XM_017016740.1:c.-94+527T>G | XP_016872229.1:n.-94+527T>G | |
| NM_001099282.2:c.-216+527T>G MANE Select | NP_001092752.1:n.-216+527T>G | |
| NM_001324347.2:c.-93+527T>G | NP_001311276.1:n.-93+527T>G | |
| NM_001324348.2:c.-93+1361T>G | NP_001311277.1:n.-93+1361T>G | |
| NM_001324349.2:c.-216+527T>G | NP_001311278.1:n.-216+527T>G | |
| NM_001324350.2:c.-93+527T>G | NP_001311279.1:n.-93+527T>G | |
| NM_001324351.2:c.-216+1361T>G | NP_001311280.1:n.-216+1361T>G | |
| NM_001324352.2:c.-94+527T>G | NP_001311281.1:n.-94+527T>G | |
| NM_001324353.2:c.15+527T>G | NP_001311282.1:n.15+527T>G | |
| NM_001099283.2:c.-93+1430T>G | NP_001092753.1:n.-93+1430T>G | |
| NM_001099284.2:c.-216+1430T>G | NP_001092754.1:n.-216+1430T>G |