Linked Data
dbSNP Id:
rs10846086
gnomAD v2:
12-8025266-A-G
gnomAD v3:
12-7872670-A-G
gnomAD v4:
12-7872670-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7872670A>G , CM000674.2:g.7872670A>G | GRCh38 |
| NC_000012.11:g.8025266A>G , CM000674.1:g.8025266A>G | GRCh37 |
| NC_000012.10:g.7916533A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431042.7:c.-58+137T>C MANE Select | ENSP00000407287.2:n.-58+137T>C | |
| ENST00000340749.9:c.-356+137T>C | ENSP00000340450.5:n.-356+137T>C | |
| ENST00000396589.6:c.-78+190T>C | ENSP00000379834.2:n.-78+190T>C | |
| ENST00000431042.6:c.-58+137T>C | ENSP00000407287.2:n.-58+137T>C | |
| ENST00000535266.5:c.-78+349T>C | ENSP00000437653.1:n.-78+349T>C | |
| ENST00000535295.5:c.-155+137T>C | ENSP00000440492.1:n.-155+137T>C | |
| ENST00000535344.5:c.-58+52T>C | ENSP00000443217.1:n.-58+52T>C | |
| ENST00000535383.5:c.-58+349T>C | ENSP00000443076.1:n.-58+349T>C | |
| ENST00000535587.5:c.-461+190T>C | ENSP00000438876.1:n.-461+190T>C | |
| ENST00000536594.5:c.-58+137T>C | ENSP00000440980.1:n.-58+137T>C | |
| ENST00000537557.5:c.-78+137T>C | ENSP00000440044.1:n.-78+137T>C | |
| ENST00000539234.5:c.-356+137T>C | ENSP00000444692.1:n.-356+137T>C | |
| ENST00000539924.5:c.132+18326T>C | ENSP00000445929.1:n.132+18326T>C | |
| ENST00000542505.5:c.-145+349T>C | ENSP00000438484.1:n.-145+349T>C | |
| ENST00000542782.5:c.-58+190T>C | ENSP00000438312.1:n.-58+190T>C | |
| ENST00000543909.5:c.-743+137T>C | ENSP00000440480.1:n.-743+137T>C | |
| ENST00000544749.1:n.58+137T>C | ||
| ENST00000546234.5:c.-280+137T>C | ENSP00000440043.1:n.-280+137T>C | |
| NM_001286233.1:c.-743+137T>C | NP_001273162.1:n.-743+137T>C | |
| NM_001286234.1:c.-58+137T>C | NP_001273163.1:n.-58+137T>C | |
| NM_001286235.1:c.-356+137T>C | NP_001273164.1:n.-356+137T>C | |
| NM_001286236.1:c.-155+137T>C | NP_001273165.1:n.-155+137T>C | |
| NM_001286237.1:c.132+18326T>C | NP_001273166.1:n.132+18326T>C | |
| NM_153449.3:c.-78+190T>C | NP_703150.1:n.-78+190T>C | |
| XM_005253315.2:c.-58+190T>C | XP_005253372.1:n.-58+190T>C | |
| XM_005253317.3:c.-58+349T>C | XP_005253374.1:n.-58+349T>C | |
| XM_011520562.1:c.-461+137T>C | XP_011518864.1:n.-461+137T>C | |
| XM_011520563.1:c.-58+52T>C | XP_011518865.1:n.-58+52T>C | |
| XM_011520564.1:c.-155+190T>C | XP_011518866.1:n.-155+190T>C | |
| XM_011520565.1:c.-80+18326T>C | XP_011518867.1:n.-80+18326T>C | |
| XM_005253315.4:c.-58+190T>C | XP_005253372.1:n.-58+190T>C | |
| XM_005253317.5:c.-58+349T>C | XP_005253374.1:n.-58+349T>C | |
| XM_011520563.2:c.-58+52T>C | XP_011518865.1:n.-58+52T>C | |
| XM_011520564.2:c.-155+190T>C | XP_011518866.1:n.-155+190T>C | |
| XM_011520565.2:c.-80+18326T>C | XP_011518867.1:n.-80+18326T>C | |
| XM_017018841.1:c.-58+137T>C | XP_016874330.1:n.-58+137T>C | |
| XM_017018844.1:c.-58+190T>C | XP_016874333.1:n.-58+190T>C | |
| XM_017018845.2:c.-58+349T>C | XP_016874334.1:n.-58+349T>C | |
| XM_017018846.1:c.-280+137T>C | XP_016874335.1:n.-280+137T>C | |
| XM_017018847.1:c.-57-2733T>C | XP_016874336.1:n.-57-2733T>C | |
| XM_024448849.1:c.-134+52T>C | XP_024304617.1:n.-134+52T>C | |
| NM_001286233.2:c.-743+137T>C | NP_001273162.1:n.-743+137T>C | |
| NM_001286234.2:c.-58+137T>C MANE Select | NP_001273163.1:n.-58+137T>C | |
| NM_001286235.2:c.-356+137T>C | NP_001273164.1:n.-356+137T>C | |
| NM_001286236.2:c.-155+137T>C | NP_001273165.1:n.-155+137T>C | |
| NM_001286237.2:c.132+18326T>C | NP_001273166.1:n.132+18326T>C | |
| NM_153449.4:c.-78+190T>C | NP_703150.1:n.-78+190T>C |