Linked Data
dbSNP Id:
rs10968280
gnomAD v2:
9-28011645-T-A
gnomAD v3:
9-28011647-T-A
gnomAD v4:
9-28011647-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.28011647T>A , CM000671.2:g.28011647T>A | GRCh38 |
| NC_000009.11:g.28011645T>A , CM000671.1:g.28011645T>A | GRCh37 |
| NC_000009.10:g.28001645T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698399.1:c.-35-60941A>T MANE Select | ENSP00000513694.1:n.-35-60941A>T | |
| ENST00000698400.1:c.-36+14612A>T | ENSP00000513695.1:n.-36+14612A>T | |
| ENST00000698401.1:c.-438-28289A>T | ENSP00000513696.1:n.-438-28289A>T | |
| ENST00000698402.1:c.-35-60941A>T | ENSP00000513697.1:n.-35-60941A>T | |
| ENST00000698403.1:c.-36+708A>T | ENSP00000513698.1:n.-36+708A>T | |
| ENST00000698404.1:c.-36+708A>T | ENSP00000513699.1:n.-36+708A>T | |
| ENST00000308675.5:c.-36+708A>T | ENSP00000310126.3:n.-36+708A>T | |
| ENST00000379992.6:c.-36+708A>T | ENSP00000369328.1:n.-36+708A>T | |
| ENST00000613945.3:c.-42-60934A>T | ENSP00000479634.1:n.-42-60934A>T | |
| NM_001258282.1:c.-35-60941A>T | NP_001245211.1:n.-35-60941A>T | |
| NM_152570.2:c.-36+708A>T | NP_689783.1:n.-36+708A>T | |
| XM_005251372.3:c.-36+708A>T | XP_005251429.1:n.-36+708A>T | |
| XM_011517715.1:c.-35-60941A>T | XP_011516017.1:n.-35-60941A>T | |
| XM_011517716.1:c.-35-60941A>T | XP_011516018.1:n.-35-60941A>T | |
| XM_011517717.1:c.-35-60941A>T | XP_011516019.1:n.-35-60941A>T | |
| XM_011517718.1:c.-35-60941A>T | XP_011516020.1:n.-35-60941A>T | |
| XM_011517719.1:c.-35-60941A>T | XP_011516021.1:n.-35-60941A>T | |
| XM_011517720.1:c.-36+708A>T | XP_011516022.1:n.-36+708A>T | |
| XM_011517721.1:c.-36+708A>T | XP_011516023.1:n.-36+708A>T | |
| XM_011517722.1:c.-36+708A>T | XP_011516024.1:n.-36+708A>T | |
| XM_011517723.1:c.-160+708A>T | XP_011516025.1:n.-160+708A>T | |
| XM_011517724.1:c.-36+708A>T | XP_011516026.1:n.-36+708A>T | |
| XM_011517725.1:c.-160+708A>T | XP_011516027.1:n.-160+708A>T | |
| XM_011517726.1:c.-36+14085A>T | XP_011516028.1:n.-36+14085A>T | |
| XM_011517727.1:c.-36+14612A>T | XP_011516029.1:n.-36+14612A>T | |
| XM_011517728.1:c.-36+22476A>T | XP_011516030.1:n.-36+22476A>T | |
| XM_011517729.1:c.-35-60941A>T | XP_011516031.1:n.-35-60941A>T | |
| NM_001258282.2:c.-35-60941A>T | NP_001245211.1:n.-35-60941A>T | |
| NM_001354574.1:c.-35-60941A>T | NP_001341503.1:n.-35-60941A>T | |
| NM_001354575.1:c.-35-60941A>T | NP_001341504.1:n.-35-60941A>T | |
| NM_152570.3:c.-36+708A>T | NP_689783.1:n.-36+708A>T | |
| XM_011517724.2:c.-36+708A>T | XP_011516026.1:n.-36+708A>T | |
| XM_011517728.2:c.-36+22476A>T | XP_011516030.1:n.-36+22476A>T | |
| XM_017014303.2:c.-36+708A>T | XP_016869792.1:n.-36+708A>T | |
| XM_017014304.1:c.-36+708A>T | XP_016869793.1:n.-36+708A>T | |
| XM_017014305.1:c.-36+708A>T | XP_016869794.1:n.-36+708A>T | |
| XM_017014306.2:c.-36+708A>T | XP_016869795.1:n.-36+708A>T | |
| XR_001746186.2:n.2519-60941A>T | ||
| NM_001258282.3:c.-35-60941A>T MANE Select | NP_001245211.1:n.-35-60941A>T | |
| NM_001354574.2:c.-35-60941A>T | NP_001341503.1:n.-35-60941A>T | |
| NM_001354575.2:c.-35-60941A>T | NP_001341504.1:n.-35-60941A>T | |
| NM_152570.4:c.-36+708A>T | NP_689783.1:n.-36+708A>T |