Linked Data
dbSNP Id:
rs10968562
gnomAD v2:
9-28402043-A-G
gnomAD v3:
9-28402045-A-G
gnomAD v4:
9-28402045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.28402045A>G , CM000671.2:g.28402045A>G | GRCh38 |
| NC_000009.11:g.28402043A>G , CM000671.1:g.28402043A>G | GRCh37 |
| NC_000009.10:g.28392043A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698399.1:c.-227-29177T>C MANE Select | ENSP00000513694.1:n.-227-29177T>C | |
| ENST00000698400.1:c.-442-29177T>C | ENSP00000513695.1:n.-442-29177T>C | |
| ENST00000698401.1:c.-598+73895T>C | ENSP00000513696.1:n.-598+73895T>C | |
| ENST00000698402.1:c.-382-29177T>C | ENSP00000513697.1:n.-382-29177T>C | |
| ENST00000698403.1:c.-603-29177T>C | ENSP00000513698.1:n.-603-29177T>C | |
| ENST00000698404.1:c.-338-29177T>C | ENSP00000513699.1:n.-338-29177T>C | |
| ENST00000308675.5:c.-261+73882T>C | ENSP00000310126.3:n.-261+73882T>C | |
| ENST00000379992.6:c.-278-29177T>C | ENSP00000369328.1:n.-278-29177T>C | |
| ENST00000613945.3:c.-210+73882T>C | ENSP00000479634.1:n.-210+73882T>C | |
| NM_001258282.1:c.-227-29177T>C | NP_001245211.1:n.-227-29177T>C | |
| NM_152570.2:c.-278-29177T>C | NP_689783.1:n.-278-29177T>C | |
| XM_011517715.1:c.-227-29177T>C | XP_011516017.1:n.-227-29177T>C | |
| XM_011517716.1:c.-227-29177T>C | XP_011516018.1:n.-227-29177T>C | |
| XM_011517717.1:c.-227-29177T>C | XP_011516019.1:n.-227-29177T>C | |
| XM_011517718.1:c.-227-29177T>C | XP_011516020.1:n.-227-29177T>C | |
| XM_011517719.1:c.-195+73895T>C | XP_011516021.1:n.-195+73895T>C | |
| NM_001258282.2:c.-227-29177T>C | NP_001245211.1:n.-227-29177T>C | |
| NM_001354574.1:c.-195+73895T>C | NP_001341503.1:n.-195+73895T>C | |
| NM_001354575.1:c.-227-29177T>C | NP_001341504.1:n.-227-29177T>C | |
| NM_152570.3:c.-278-29177T>C | NP_689783.1:n.-278-29177T>C | |
| XM_017014303.2:c.-2852-29177T>C | XP_016869792.1:n.-2852-29177T>C | |
| XR_001746186.2:n.2327-29177T>C | ||
| NM_001258282.3:c.-227-29177T>C MANE Select | NP_001245211.1:n.-227-29177T>C | |
| NM_001354574.2:c.-195+73895T>C | NP_001341503.1:n.-195+73895T>C | |
| NM_001354575.2:c.-227-29177T>C | NP_001341504.1:n.-227-29177T>C | |
| NM_152570.4:c.-278-29177T>C | NP_689783.1:n.-278-29177T>C |