Linked Data
dbSNP Id:
rs10860603
gnomAD v2:
12-100943948-G-A
gnomAD v3:
12-100550170-G-A
gnomAD v4:
12-100550170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100550170G>A , CM000674.2:g.100550170G>A | GRCh38 |
| NC_000012.11:g.100943948G>A , CM000674.1:g.100943948G>A | GRCh37 |
| NC_000012.10:g.99468079G>A | NCBI36 |
| NG_029843.1:g.81398G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392986.8:c.1078+9352G>A MANE Select | ENSP00000376712.3:n.1078+9352G>A | |
| ENST00000648861.1:c.1078+9352G>A | ENSP00000496908.1:n.1078+9352G>A | |
| ENST00000188403.7:c.1096+9352G>A | ENSP00000188403.7:n.1096+9352G>A | |
| ENST00000321046.9:c.*258+9352G>A | ENSP00000315442.5:n.*258+9352G>A | |
| ENST00000392986.7:c.1078+9352G>A | ENSP00000376712.3:n.1078+9352G>A | |
| ENST00000548884.5:c.1066+9352G>A | ENSP00000448506.1:n.1066+9352G>A | |
| ENST00000549996.5:c.925+9352G>A | ENSP00000448978.1:n.925+9352G>A | |
| ENST00000551379.5:c.1108+9352G>A | ENSP00000447149.1:n.1108+9352G>A | |
| NM_001206977.1:c.1078+9352G>A | NP_001193906.1:n.1078+9352G>A | |
| NM_001206978.1:c.925+9352G>A | NP_001193907.1:n.925+9352G>A | |
| NM_001206979.1:c.1078+9352G>A | NP_001193908.1:n.1078+9352G>A | |
| NM_001206992.1:c.1096+9352G>A | NP_001193921.1:n.1096+9352G>A | |
| NM_001206993.1:c.1108+9352G>A | NP_001193922.1:n.1108+9352G>A | |
| NM_005123.3:c.1066+9352G>A | NP_005114.1:n.1066+9352G>A | |
| XM_011539040.1:c.1078+9352G>A | XP_011537342.1:n.1078+9352G>A | |
| XM_011539041.1:c.955+9352G>A | XP_011537343.1:n.955+9352G>A | |
| XR_245969.2:n.1561+9352G>A | ||
| NR_135146.1:n.1547+9352G>A | ||
| XM_011539040.2:c.1078+9352G>A | XP_011537342.1:n.1078+9352G>A | |
| XM_011539041.2:c.955+9352G>A | XP_011537343.1:n.955+9352G>A | |
| NM_001206979.2:c.1078+9352G>A MANE Select | NP_001193908.1:n.1078+9352G>A | |
| NM_001206977.2:c.1078+9352G>A | NP_001193906.1:n.1078+9352G>A | |
| NM_001206978.2:c.925+9352G>A | NP_001193907.1:n.925+9352G>A | |
| NM_001206992.2:c.1096+9352G>A | NP_001193921.1:n.1096+9352G>A | |
| NM_001206993.2:c.1108+9352G>A | NP_001193922.1:n.1108+9352G>A | |
| NM_005123.4:c.1066+9352G>A | NP_005114.1:n.1066+9352G>A | |
| NR_135146.2:n.1454+9352G>A |