Linked Data
dbSNP Id:
rs1196568610
gnomAD v2:
11-126141221-A-T
gnomAD v3:
11-126271326-A-T
gnomAD v4:
11-126271326-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271326A>T , CM000673.2:g.126271326A>T | GRCh38 |
| NC_000011.9:g.126141221A>T , CM000673.1:g.126141221A>T | GRCh37 |
| NC_000011.8:g.125646431A>T | NCBI36 |
| NG_028029.1:g.7287A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.264-111A>T | ||
| ENST00000532101.6:n.152A>T | ||
| ENST00000532125.2:c.86-111A>T | ENSP00000434178.2:n.86-111A>T | |
| ENST00000533839.6:c.85+2035A>T | ENSP00000509952.1:n.85+2035A>T | |
| ENST00000534011.6:n.251A>T | ||
| ENST00000685484.1:c.86-111A>T | ENSP00000510622.1:n.86-111A>T | |
| ENST00000685601.1:c.86-111A>T | ENSP00000510603.1:n.86-111A>T | |
| ENST00000685765.1:c.86-111A>T | ENSP00000509991.1:n.86-111A>T | |
| ENST00000685844.1:c.86-1643A>T | ENSP00000509820.1:n.86-1643A>T | |
| ENST00000685857.1:n.264-111A>T | ||
| ENST00000686242.1:c.86-1643A>T | ENSP00000508950.1:n.86-1643A>T | |
| ENST00000686888.1:c.86-111A>T | ENSP00000509619.1:n.86-111A>T | |
| ENST00000687699.1:c.210-111A>T | ENSP00000508878.1:n.210-111A>T | |
| ENST00000687786.1:n.1308A>T | ||
| ENST00000688588.1:c.86-111A>T | ENSP00000510802.1:n.86-111A>T | |
| ENST00000688927.1:n.264-111A>T | ||
| ENST00000689283.1:c.210-1643A>T | ENSP00000509050.1:n.210-1643A>T | |
| ENST00000689477.1:c.161+31A>T | ENSP00000508945.1:n.161+31A>T | |
| ENST00000689765.1:c.86-1643A>T | ENSP00000509625.1:n.86-1643A>T | |
| ENST00000690512.1:c.86-1152A>T | ENSP00000509793.1:n.86-1152A>T | |
| ENST00000692039.1:c.86-25A>T | ENSP00000508821.1:n.86-25A>T | |
| ENST00000692336.1:c.86-111A>T | ENSP00000508540.1:n.86-111A>T | |
| ENST00000693133.1:n.226-1643A>T | ||
| ENST00000263578.10:c.86-111A>T MANE Select | ENSP00000263578.5:n.86-111A>T | |
| ENST00000263578.9:c.86-111A>T | ENSP00000263578.5:n.86-111A>T | |
| ENST00000524751.5:n.223-1643A>T | ||
| ENST00000525083.5:n.122-1643A>T | ||
| ENST00000525770.5:c.86-1643A>T | ENSP00000434739.1:n.86-1643A>T | |
| ENST00000526366.5:n.101-393A>T | ||
| ENST00000526525.1:n.246-1643A>T | ||
| ENST00000527004.5:c.86-111A>T | ENSP00000436374.1:n.86-111A>T | |
| ENST00000529802.1:n.136-111A>T | ||
| ENST00000532101.5:n.198A>T | ||
| ENST00000532125.1:c.44-111A>T | ENSP00000434178.1:n.44-111A>T | |
| ENST00000533839.5:n.237+2035A>T | ||
| ENST00000534011.5:n.158-1152A>T | ||
| ENST00000534315.5:n.382A>T | ||
| NM_017547.3:c.86-111A>T | NP_060017.1:n.86-111A>T | |
| NR_037647.1:n.253-1643A>T | ||
| NR_037648.1:n.272-111A>T | ||
| XM_006718880.2:c.-564A>T | XP_006718943.1:n.-564A>T | |
| XM_006718881.2:c.-232-1643A>T | XP_006718944.1:n.-232-1643A>T | |
| XM_011542895.1:c.-536A>T | XP_011541197.1:n.-536A>T | |
| XM_011542896.1:c.-445-111A>T | XP_011541198.1:n.-445-111A>T | |
| XM_006718881.3:c.-232-1643A>T | XP_006718944.1:n.-232-1643A>T | |
| XM_011542895.2:c.-536A>T | XP_011541197.1:n.-536A>T | |
| XM_011542896.2:c.-445-111A>T | XP_011541198.1:n.-445-111A>T | |
| XM_017018000.2:c.86-111A>T | XP_016873489.1:n.86-111A>T | |
| XM_017018001.1:c.-445-111A>T | XP_016873490.1:n.-445-111A>T | |
| XM_017018002.1:c.-224-1643A>T | XP_016873491.1:n.-224-1643A>T | |
| XM_017018003.2:c.-453-111A>T | XP_016873492.1:n.-453-111A>T | |
| XM_017018004.1:c.-564A>T | XP_016873493.1:n.-564A>T | |
| XM_017018005.1:c.-762A>T | XP_016873494.1:n.-762A>T | |
| XM_017018006.2:c.-453-111A>T | XP_016873495.1:n.-453-111A>T | |
| NM_017547.4:c.86-111A>T MANE Select | NP_060017.1:n.86-111A>T | |
| NR_037647.2:n.139-1643A>T | ||
| NR_037648.2:n.263-111A>T |