Linked Data
ClinVar Variation Id:
346941
dbSNP Id:
rs143739859
gnomAD v2:
3-97485464-A-T
gnomAD v3:
3-97766620-A-T
gnomAD v4:
3-97766620-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97766620A>T , CM000665.2:g.97766620A>T | GRCh38 |
| NC_000003.11:g.97485464A>T , CM000665.1:g.97485464A>T | GRCh37 |
| NC_000003.10:g.98968154A>T | NCBI36 |
| NG_008119.1:g.6870A>T | |
| NG_008119.2:g.6870A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462412.3:c.-86-12A>T | ENSP00000418740.2:n.-86-12A>T | |
| ENST00000631834.2:c.-27-1461A>T | ENSP00000488530.2:n.-27-1461A>T | |
| ENST00000463745.6:c.-27-1461A>T MANE Select | ENSP00000419619.1:n.-27-1461A>T | |
| ENST00000335979.6:c.-28+531A>T | ENSP00000337722.2:n.-28+531A>T | |
| ENST00000394206.5:c.-86-12A>T | ENSP00000377756.1:n.-86-12A>T | |
| ENST00000462412.2:c.-86-12A>T | ENSP00000418740.1:n.-86-12A>T | |
| ENST00000463745.5:c.-27-1461A>T | ENSP00000419619.1:n.-27-1461A>T | |
| ENST00000493990.5:c.-28+531A>T | ENSP00000418057.1:n.-28+531A>T | |
| ENST00000496713.1:n.212-1461A>T | ||
| NM_001278293.1:c.-27-1461A>T | NP_001265222.1:n.-27-1461A>T | |
| NM_032146.4:c.-28+531A>T | NP_115522.1:n.-28+531A>T | |
| NM_177976.2:c.-86-12A>T | NP_816931.1:n.-86-12A>T | |
| NR_103511.1:n.556+531A>T | ||
| XM_006713779.2:c.-27-1461A>T | XP_006713842.1:n.-27-1461A>T | |
| XM_006713783.2:c.-27-1461A>T | XP_006713846.1:n.-27-1461A>T | |
| XM_011513230.1:c.-27-1461A>T | XP_011511532.1:n.-27-1461A>T | |
| XR_924184.1:n.446-1461A>T | ||
| XR_924185.1:n.551+531A>T | ||
| XR_924186.1:n.540-12A>T | ||
| XR_924187.1:n.446-1461A>T | ||
| XR_924188.1:n.441-12A>T | ||
| XR_924189.1:n.446-1461A>T | ||
| NM_001278293.2:c.-27-1461A>T | NP_001265222.1:n.-27-1461A>T | |
| NM_001323513.1:c.-27-1461A>T | NP_001310442.1:n.-27-1461A>T | |
| NM_001323514.1:c.-27-1461A>T | NP_001310443.1:n.-27-1461A>T | |
| NM_032146.5:c.-28+531A>T | NP_115522.1:n.-28+531A>T | |
| NM_177976.3:c.-86-12A>T | NP_816931.1:n.-86-12A>T | |
| NR_136595.1:n.556+531A>T | ||
| NR_136597.1:n.458-1461A>T | ||
| NR_136598.1:n.458-1461A>T | ||
| NR_136600.1:n.458-1461A>T | ||
| NR_136601.1:n.458-1461A>T | ||
| NR_136602.1:n.458-1461A>T | ||
| XM_017007311.2:c.-86-12A>T | XP_016862800.1:n.-86-12A>T | |
| XM_017007312.2:c.-28+531A>T | XP_016862801.1:n.-28+531A>T | |
| XR_001740319.2:n.2398-1461A>T | ||
| XR_001740321.2:n.2398-1461A>T | ||
| XR_002959599.1:n.2398-12A>T | ||
| XR_924184.3:n.2398-1461A>T | ||
| XR_924185.3:n.2496+531A>T | ||
| XR_924186.3:n.2497-12A>T | ||
| XR_924187.3:n.2398-1461A>T | ||
| XR_924188.3:n.2398-12A>T | ||
| XR_924189.3:n.2398-1461A>T | ||
| NM_001278293.3:c.-27-1461A>T MANE Select | NP_001265222.1:n.-27-1461A>T | |
| NM_001323513.2:c.-27-1461A>T | NP_001310442.1:n.-27-1461A>T | |
| NM_001323514.2:c.-27-1461A>T | NP_001310443.1:n.-27-1461A>T | |
| NR_103511.2:n.319+531A>T | ||
| NR_136595.2:n.319+531A>T | ||
| NR_136597.2:n.221-1461A>T | ||
| NR_136598.2:n.221-1461A>T | ||
| NR_136600.2:n.221-1461A>T | ||
| NR_136601.2:n.221-1461A>T | ||
| NR_136602.2:n.221-1461A>T | ||
| NR_103511.3:n.319+531A>T | ||
| NR_136600.3:n.221-1461A>T | ||
| NR_136601.3:n.221-1461A>T | ||
| NR_136602.3:n.221-1461A>T |