Linked Data
ClinVar Variation Id:
390653
dbSNP Id:
rs374773161
ExAC:
X:110961173 A / G
gnomAD v2:
X-110961173-A-G
gnomAD v3:
X-111717945-A-G
gnomAD v4:
X-111717945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111717945A>G , CM000685.2:g.111717945A>G | GRCh38 |
| NC_000023.10:g.110961173A>G , CM000685.1:g.110961173A>G | GRCh37 |
| NC_000023.9:g.110847829A>G | NCBI36 |
| NG_016238.1:g.41828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623622.2:c.1087+18A>G | ENSP00000485624.2:n.1087+18A>G | |
| ENST00000699748.1:c.*1056+18A>G | ENSP00000514558.1:n.*1056+18A>G | |
| ENST00000699778.1:c.202+18A>G | ENSP00000514584.1:n.202+18A>G | |
| ENST00000394780.8:c.1087+18A>G MANE Select | ENSP00000378260.3:n.1087+18A>G | |
| ENST00000636363.1:c.*150+18A>G | ENSP00000490681.1:n.*150+18A>G | |
| ENST00000251943.8:c.775+18A>G | ENSP00000251943.4:n.775+18A>G | |
| ENST00000394780.7:c.1087+18A>G | ENSP00000378260.3:n.1087+18A>G | |
| ENST00000436609.5:c.775+18A>G | ENSP00000392990.2:n.775+18A>G | |
| ENST00000470971.5:c.*319-3658A>G | ENSP00000479424.2:n.*319-3658A>G | |
| ENST00000495283.5:c.*952+18A>G | ENSP00000427093.3:n.*952+18A>G | |
| ENST00000610588.4:c.853+18A>G | ENSP00000479731.1:n.853+18A>G | |
| ENST00000621367.4:c.775+18A>G | ENSP00000481509.1:n.775+18A>G | |
| ENST00000623144.3:c.*1056+18A>G | ENSP00000485279.1:n.*1056+18A>G | |
| ENST00000623148.3:c.1105+18A>G | ENSP00000485658.1:n.1105+18A>G | |
| ENST00000623622.1:c.49+18A>G | ENSP00000485624.1:n.49+18A>G | |
| ENST00000624161.3:c.*851+18A>G | ENSP00000485181.1:n.*851+18A>G | |
| NM_001099922.2:c.1087+18A>G | NP_001093392.1:n.1087+18A>G | |
| NM_001257230.1:c.775+18A>G | NP_001244159.1:n.775+18A>G | |
| NM_001257231.1:c.853+18A>G | NP_001244160.1:n.853+18A>G | |
| NM_001257234.1:c.775+18A>G | NP_001244163.1:n.775+18A>G | |
| NM_001257237.1:c.775+18A>G | NP_001244166.1:n.775+18A>G | |
| XM_006724693.2:c.1087+18A>G | XP_006724756.1:n.1087+18A>G | |
| XM_006724695.2:c.1087+18A>G | XP_006724758.1:n.1087+18A>G | |
| XM_006724697.2:c.775+18A>G | XP_006724760.2:n.775+18A>G | |
| XM_006724698.2:c.775+18A>G | XP_006724761.2:n.775+18A>G | |
| XM_011531028.1:c.1087+18A>G | XP_011529330.1:n.1087+18A>G | |
| XM_011531029.1:c.916+18A>G | XP_011529331.1:n.916+18A>G | |
| XM_011531030.1:c.1087+18A>G | XP_011529332.1:n.1087+18A>G | |
| XM_011531031.1:c.775+18A>G | XP_011529333.1:n.775+18A>G | |
| XM_011531032.1:c.775+18A>G | XP_011529334.1:n.775+18A>G | |
| XM_011531033.1:c.775+18A>G | XP_011529335.1:n.775+18A>G | |
| XM_011531034.1:c.478+18A>G | XP_011529336.1:n.478+18A>G | |
| XM_011531035.1:c.283+18A>G | XP_011529337.1:n.283+18A>G | |
| XR_938409.1:n.1560+18A>G | ||
| NM_001324292.1:c.1087+18A>G | NP_001311221.1:n.1087+18A>G | |
| NM_001324293.1:c.775+18A>G | NP_001311222.1:n.775+18A>G | |
| NR_148693.1:n.1142+18A>G | ||
| XM_006724693.3:c.1087+18A>G | XP_006724756.1:n.1087+18A>G | |
| XM_006724697.3:c.775+18A>G | XP_006724760.2:n.775+18A>G | |
| XM_006724698.3:c.775+18A>G | XP_006724761.2:n.775+18A>G | |
| XM_011531028.2:c.1087+18A>G | XP_011529330.1:n.1087+18A>G | |
| XM_011531030.2:c.1087+18A>G | XP_011529332.1:n.1087+18A>G | |
| XM_011531033.3:c.775+18A>G | XP_011529335.1:n.775+18A>G | |
| XM_011531034.2:c.478+18A>G | XP_011529336.1:n.478+18A>G | |
| XM_017029846.1:c.1087+18A>G | XP_016885335.1:n.1087+18A>G | |
| XM_017029847.1:c.1087+18A>G | XP_016885336.1:n.1087+18A>G | |
| XM_017029848.1:c.1087+18A>G | XP_016885337.1:n.1087+18A>G | |
| XM_017029849.1:c.1087+18A>G | XP_016885338.1:n.1087+18A>G | |
| XM_017029850.2:c.1087+18A>G | XP_016885339.1:n.1087+18A>G | |
| XM_017029851.1:c.283+18A>G | XP_016885340.1:n.283+18A>G | |
| XM_017029852.1:c.118+18A>G | XP_016885341.1:n.118+18A>G | |
| XM_017029853.1:c.-260+18A>G | XP_016885342.1:n.-260+18A>G | |
| XM_017029855.1:c.-260+18A>G | XP_016885344.1:n.-260+18A>G | |
| XM_024452449.1:c.1087+18A>G | XP_024308217.1:n.1087+18A>G | |
| XR_001755726.1:n.1033+18A>G | ||
| NM_001099922.3:c.1087+18A>G MANE Select | NP_001093392.1:n.1087+18A>G | |
| NM_001257230.2:c.775+18A>G | NP_001244159.1:n.775+18A>G | |
| NM_001324292.2:c.1087+18A>G | NP_001311221.1:n.1087+18A>G | |
| NR_148693.2:n.1090+18A>G | ||
| NM_001257231.2:c.853+18A>G | NP_001244160.1:n.853+18A>G | |
| NM_001257234.2:c.775+18A>G | NP_001244163.1:n.775+18A>G | |
| NM_001257237.2:c.775+18A>G | NP_001244166.1:n.775+18A>G |