Linked Data
ClinVar Variation Id:
386580
dbSNP Id:
rs1057522541
gnomAD v3:
X-111718241-C-T
gnomAD v4:
X-111718241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111718241C>T , CM000685.2:g.111718241C>T | GRCh38 |
| NC_000023.10:g.110961469C>T , CM000685.1:g.110961469C>T | GRCh37 |
| NC_000023.9:g.110848125C>T | NCBI36 |
| NG_016238.1:g.42124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623622.2:c.1217C>T | ENSP00000485624.2:p.Ala406Val | |
| ENST00000699748.1:c.*1186C>T | ENSP00000514558.1:n.*1186C>T | |
| ENST00000699778.1:c.332C>T | ENSP00000514584.1:p.Ala111Val | |
| ENST00000394780.8:c.1217C>T MANE Select | ENSP00000378260.3:p.Ala406Val | |
| ENST00000636363.1:c.*280C>T | ENSP00000490681.1:n.*280C>T | |
| ENST00000251943.8:c.905C>T | ENSP00000251943.4:p.Ala302Val | |
| ENST00000394780.7:c.1217C>T | ENSP00000378260.3:p.Ala406Val | |
| ENST00000436609.5:c.905C>T | ENSP00000392990.2:p.Ala302Val | |
| ENST00000470971.5:c.*319-3362C>T | ENSP00000479424.2:n.*319-3362C>T | |
| ENST00000490774.2:n.23C>T | ||
| ENST00000495283.5:c.*1082C>T | ENSP00000427093.3:n.*1082C>T | |
| ENST00000610588.4:c.983C>T | ENSP00000479731.1:p.Ala328Val | |
| ENST00000621367.4:c.905C>T | ENSP00000481509.1:p.Ala302Val | |
| ENST00000623144.3:c.*1186C>T | ENSP00000485279.1:n.*1186C>T | |
| ENST00000623148.3:c.1235C>T | ENSP00000485658.1:n.1235C>T | |
| ENST00000623622.1:c.179C>T | ENSP00000485624.1:p.Ala60Val | |
| ENST00000624161.3:c.*981C>T | ENSP00000485181.1:n.*981C>T | |
| NM_001099922.2:c.1217C>T | NP_001093392.1:p.Ala406Val | |
| NM_001257230.1:c.905C>T | NP_001244159.1:p.Ala302Val | |
| NM_001257231.1:c.983C>T | NP_001244160.1:p.Ala328Val | |
| NM_001257234.1:c.905C>T | NP_001244163.1:p.Ala302Val | |
| NM_001257237.1:c.905C>T | NP_001244166.1:p.Ala302Val | |
| XM_006724693.2:c.1217C>T | XP_006724756.1:p.Ala406Val | |
| XM_006724695.2:c.1217C>T | XP_006724758.1:p.Ala406Val | |
| XM_006724697.2:c.905C>T | XP_006724760.2:p.Ala302Val | |
| XM_006724698.2:c.905C>T | XP_006724761.2:p.Ala302Val | |
| XM_011531028.1:c.1217C>T | XP_011529330.1:p.Ala406Val | |
| XM_011531029.1:c.1046C>T | XP_011529331.1:p.Ala349Val | |
| XM_011531030.1:c.1217C>T | XP_011529332.1:p.Ala406Val | |
| XM_011531031.1:c.905C>T | XP_011529333.1:p.Ala302Val | |
| XM_011531032.1:c.905C>T | XP_011529334.1:p.Ala302Val | |
| XM_011531033.1:c.905C>T | XP_011529335.1:p.Ala302Val | |
| XM_011531034.1:c.608C>T | XP_011529336.1:p.Ala203Val | |
| XM_011531035.1:c.413C>T | XP_011529337.1:p.Ala138Val | |
| XM_011531037.1:c.-195C>T | XP_011529339.1:n.-195C>T | |
| XR_938409.1:n.1690C>T | ||
| NM_001324292.1:c.1217C>T | NP_001311221.1:p.Ala406Val | |
| NM_001324293.1:c.905C>T | NP_001311222.1:p.Ala302Val | |
| NR_148693.1:n.1272C>T | ||
| XM_006724693.3:c.1217C>T | XP_006724756.1:p.Ala406Val | |
| XM_006724697.3:c.905C>T | XP_006724760.2:p.Ala302Val | |
| XM_006724698.3:c.905C>T | XP_006724761.2:p.Ala302Val | |
| XM_011531028.2:c.1217C>T | XP_011529330.1:p.Ala406Val | |
| XM_011531030.2:c.1217C>T | XP_011529332.1:p.Ala406Val | |
| XM_011531033.3:c.905C>T | XP_011529335.1:p.Ala302Val | |
| XM_011531034.2:c.608C>T | XP_011529336.1:p.Ala203Val | |
| XM_017029846.1:c.1217C>T | XP_016885335.1:p.Ala406Val | |
| XM_017029847.1:c.1217C>T | XP_016885336.1:p.Ala406Val | |
| XM_017029848.1:c.1217C>T | XP_016885337.1:p.Ala406Val | |
| XM_017029849.1:c.1217C>T | XP_016885338.1:p.Ala406Val | |
| XM_017029850.2:c.1217C>T | XP_016885339.1:p.Ala406Val | |
| XM_017029851.1:c.413C>T | XP_016885340.1:p.Ala138Val | |
| XM_017029852.1:c.248C>T | XP_016885341.1:p.Ala83Val | |
| XM_017029853.1:c.-130C>T | XP_016885342.1:n.-130C>T | |
| XM_017029855.1:c.-130C>T | XP_016885344.1:n.-130C>T | |
| XM_024452449.1:c.1217C>T | XP_024308217.1:p.Ala406Val | |
| NM_001099922.3:c.1217C>T MANE Select | NP_001093392.1:p.Ala406Val | |
| NM_001257230.2:c.905C>T | NP_001244159.1:p.Ala302Val | |
| NM_001324292.2:c.1217C>T | NP_001311221.1:p.Ala406Val | |
| NR_148693.2:n.1220C>T | ||
| NM_001257231.2:c.983C>T | NP_001244160.1:p.Ala328Val | |
| NM_001257234.2:c.905C>T | NP_001244163.1:p.Ala302Val | |
| NM_001257237.2:c.905C>T | NP_001244166.1:p.Ala302Val |