Linked Data
dbSNP Id:
rs760270566
ExAC:
1:92732140 A / T
gnomAD v2:
1-92732140-A-T
gnomAD v3:
1-92266583-A-T
gnomAD v4:
1-92266583-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266583A>T , CM000663.2:g.92266583A>T | GRCh38 |
| NC_000001.10:g.92732140A>T , CM000663.1:g.92732140A>T | GRCh37 |
| NC_000001.9:g.92504728A>T | NCBI36 |
| NG_009796.1:g.37427T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1141-91T>A MANE Select | ENSP00000359385.3:n.1141-91T>A | |
| ENST00000370360.7:c.1141-91T>A | ENSP00000359385.3:n.1141-91T>A | |
| ENST00000463560.1:c.519T>A | ||
| ENST00000495106.5:c.1141-91T>A | ENSP00000436829.1:n.1141-91T>A | |
| ENST00000495852.6:c.364-91T>A | ENSP00000469157.2:n.364-91T>A | |
| NM_053274.2:c.1141-91T>A | NP_444504.1:n.1141-91T>A | |
| XM_005270400.1:c.1099-91T>A | XP_005270457.1:n.1099-91T>A | |
| XM_005270401.2:c.1015-91T>A | XP_005270458.1:n.1015-91T>A | |
| XM_006710309.1:c.640-91T>A | XP_006710372.1:n.640-91T>A | |
| XM_011540544.1:c.1141-91T>A | XP_011538846.1:n.1141-91T>A | |
| XM_011540545.1:c.1141-91T>A | XP_011538847.1:n.1141-91T>A | |
| XM_011540546.1:c.1141-91T>A | XP_011538848.1:n.1141-91T>A | |
| XR_946529.1:n.1266T>A | ||
| NM_001319683.1:c.1099-91T>A | NP_001306612.1:n.1099-91T>A | |
| NR_135089.1:n.1256-91T>A | ||
| XM_005270401.3:c.1015-91T>A | XP_005270458.1:n.1015-91T>A | |
| XM_006710309.2:c.640-91T>A | XP_006710372.1:n.640-91T>A | |
| XM_011540546.2:c.1141-91T>A | XP_011538848.1:n.1141-91T>A | |
| XM_017000137.1:c.1240-91T>A | XP_016855626.1:n.1240-91T>A | |
| XM_017000138.1:c.1198-91T>A | XP_016855627.1:n.1198-91T>A | |
| XM_017000139.1:c.1250T>A | XP_016855628.1:p.Val417Glu | |
| XM_017000140.1:c.1114-91T>A | XP_016855629.1:n.1114-91T>A | |
| XM_017000141.1:c.1151T>A | XP_016855630.1:p.Val384Glu | |
| XM_017000142.1:c.598-91T>A | XP_016855631.1:n.598-91T>A | |
| XM_017000143.1:c.598-91T>A | XP_016855632.1:n.598-91T>A | |
| XM_017000144.1:c.370-91T>A | XP_016855633.1:n.370-91T>A | |
| XR_002959248.1:n.1634T>A | ||
| XR_002959249.1:n.1266T>A | ||
| NM_053274.3:c.1141-91T>A MANE Select | NP_444504.1:n.1141-91T>A | |
| NM_001319683.2:c.1099-91T>A | NP_001306612.1:n.1099-91T>A | |
| NR_135089.2:n.1234-91T>A |