Linked Data
dbSNP Id:
rs12066959
gnomAD v2:
1-196917899-G-A
gnomAD v3:
1-196948769-G-A
gnomAD v4:
1-196948769-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196948769G>A , CM000663.2:g.196948769G>A | GRCh38 |
| NC_000001.10:g.196917899G>A , CM000663.1:g.196917899G>A | GRCh37 |
| NC_000001.9:g.195184522G>A | NCBI36 |
| NG_042816.1:g.10002G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000489703.2:c.-21-667G>A | ENSP00000514689.1:n.-21-667G>A | |
| ENST00000649960.2:c.59-686G>A | ENSP00000497428.2:n.59-686G>A | |
| ENST00000699921.1:c.232+216G>A | ENSP00000514705.1:n.232+216G>A | |
| ENST00000367415.8:c.59-686G>A MANE Select | ENSP00000356385.4:n.59-686G>A | |
| ENST00000367421.5:c.313+216G>A | ENSP00000356391.4:n.313+216G>A | |
| ENST00000485647.2:n.156-686G>A | ||
| ENST00000496448.6:c.59-2083G>A | ENSP00000496889.1:n.59-2083G>A | |
| ENST00000649283.1:c.59-848G>A | ENSP00000496999.1:n.59-848G>A | |
| ENST00000649960.1:c.55-686G>A | ||
| ENST00000367415.6:c.59-686G>A | ENSP00000356385.4:n.59-686G>A | |
| ENST00000367421.4:c.59-686G>A | ENSP00000356391.3:n.59-686G>A | |
| ENST00000473386.1:n.81+4831G>A | ||
| ENST00000476712.6:c.59-686G>A | ENSP00000476677.1:n.59-686G>A | |
| ENST00000485647.1:n.168-848G>A | ||
| ENST00000489703.1:n.123-667G>A | ||
| ENST00000496448.5:n.113-2083G>A | ||
| NM_001312672.1:c.58+4831G>A | NP_001299601.1:n.58+4831G>A | |
| NM_005666.2:c.59-686G>A | NP_005657.1:n.59-686G>A | |
| NM_005666.3:c.59-686G>A | NP_005657.1:n.59-686G>A | |
| XM_005245113.2:c.59-2083G>A | XP_005245170.1:n.59-2083G>A | |
| XM_006711285.1:c.59-848G>A | XP_006711348.1:n.59-848G>A | |
| XM_011509458.1:c.59-686G>A | XP_011507760.1:n.59-686G>A | |
| XM_011509459.1:c.-21-667G>A | XP_011507761.1:n.-21-667G>A | |
| XM_011509460.1:c.59-2083G>A | XP_011507762.1:n.59-2083G>A | |
| NM_005666.4:c.59-686G>A MANE Select | NP_005657.1:n.59-686G>A | |
| XM_005245113.3:c.59-2083G>A | XP_005245170.1:n.59-2083G>A | |
| XM_011509458.2:c.59-686G>A | XP_011507760.1:n.59-686G>A | |
| XM_011509459.2:c.-21-667G>A | XP_011507761.1:n.-21-667G>A | |
| XM_011509460.2:c.59-2083G>A | XP_011507762.1:n.59-2083G>A | |
| XM_017001109.1:c.59-686G>A | XP_016856598.1:n.59-686G>A |