Linked Data
ClinVar Variation Id:
208145
ClinVar RCV Id:
RCV000190353
dbSNP Id:
rs875989828
PubMed:
PMID:24958875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24873800C>T , CM000668.2:g.24873800C>T | GRCh38 |
| NC_000006.11:g.24874028C>T , CM000668.1:g.24874028C>T | GRCh37 |
| NC_000006.10:g.24982007C>T | NCBI36 |
| NG_051606.1:g.173489G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259698.9:c.102-1G>A | ENSP00000259698.4:n.102-1G>A | |
| ENST00000510784.8:c.204-1G>A | ENSP00000441305.1:n.204-1G>A | |
| ENST00000538035.6:c.102-1G>A | ENSP00000441138.2:n.102-1G>A | |
| ENST00000643623.1:c.102-1G>A | ENSP00000495245.1:n.102-1G>A | |
| ENST00000643898.2:c.189-1G>A MANE Select | ENSP00000494268.2:n.189-1G>A | |
| ENST00000644411.1:c.102-1G>A | ENSP00000494904.1:n.102-1G>A | |
| ENST00000644621.1:c.102-1G>A | ENSP00000495914.1:n.102-1G>A | |
| ENST00000645100.1:c.189-1G>A | ENSP00000495879.1:n.189-1G>A | |
| ENST00000647136.1:c.102-1G>A | ENSP00000494150.1:n.102-1G>A | |
| ENST00000647309.1:c.102-1G>A | ENSP00000493881.1:n.102-1G>A | |
| ENST00000259698.8:c.102-1G>A | ENSP00000259698.4:n.102-1G>A | |
| ENST00000378023.8:c.102-1G>A | ENSP00000367262.4:n.102-1G>A | |
| ENST00000510784.6:c.204-1G>A | ENSP00000441305.1:n.204-1G>A | |
| ENST00000538035.5:c.189-1G>A | ENSP00000441138.1:n.189-1G>A | |
| ENST00000540914.5:c.102-1G>A | ENSP00000438425.1:n.102-1G>A | |
| ENST00000612873.1:c.-61-1G>A | ENSP00000477857.1:n.-61-1G>A | |
| ENST00000613507.4:c.102-1G>A | ENSP00000482957.1:n.102-1G>A | |
| NM_001286445.1:c.189-1G>A | NP_001273374.1:n.189-1G>A | |
| NM_001286446.1:c.204-1G>A | NP_001273375.1:n.204-1G>A | |
| NM_001286447.1:c.102-1G>A | NP_001273376.1:n.102-1G>A | |
| NM_014722.3:c.102-1G>A | NP_055537.2:n.102-1G>A | |
| NM_015864.3:c.102-1G>A | NP_056948.2:n.102-1G>A | |
| XM_006715275.2:c.204-1G>A | XP_006715338.1:n.204-1G>A | |
| XM_006715277.1:c.102-1G>A | XP_006715340.1:n.102-1G>A | |
| XM_006715278.2:c.102-1G>A | XP_006715341.1:n.102-1G>A | |
| XM_006715279.1:c.102-1G>A | XP_006715342.1:n.102-1G>A | |
| XM_006715281.2:c.204-1G>A | XP_006715344.1:n.204-1G>A | |
| XM_011515007.1:c.189-1G>A | XP_011513309.1:n.189-1G>A | |
| XM_011515008.1:c.102-1G>A | XP_011513310.1:n.102-1G>A | |
| XM_011515009.1:c.102-1G>A | XP_011513311.1:n.102-1G>A | |
| XM_011515010.1:c.102-1G>A | XP_011513312.1:n.102-1G>A | |
| XM_011515011.1:c.204-1G>A | XP_011513313.1:n.204-1G>A | |
| XM_011515012.1:c.204-1G>A | XP_011513314.1:n.204-1G>A | |
| NM_001286445.2:c.189-1G>A | NP_001273374.1:n.189-1G>A | |
| NM_001286446.2:c.204-1G>A | NP_001273375.1:n.204-1G>A | |
| NM_001346031.1:c.102-1G>A | NP_001332960.1:n.102-1G>A | |
| NM_001346032.1:c.102-1G>A | NP_001332961.1:n.102-1G>A | |
| NM_014722.4:c.102-1G>A | NP_055537.2:n.102-1G>A | |
| XM_006715279.2:c.102-1G>A | XP_006715342.1:n.102-1G>A | |
| XM_006715281.3:c.204-1G>A | XP_006715344.1:n.204-1G>A | |
| XM_011515008.2:c.102-1G>A | XP_011513310.1:n.102-1G>A | |
| XM_017011523.1:c.102-1G>A | XP_016867012.1:n.102-1G>A | |
| XM_017011524.1:c.189-1G>A | XP_016867013.1:n.189-1G>A | |
| XM_017011525.1:c.102-1G>A | XP_016867014.1:n.102-1G>A | |
| XM_017011526.1:c.102-1G>A | XP_016867015.1:n.102-1G>A | |
| XM_017011527.1:c.102-1G>A | XP_016867016.1:n.102-1G>A | |
| XR_001743760.1:n.560-1G>A | ||
| NM_001286445.3:c.189-1G>A MANE Select | NP_001273374.1:n.189-1G>A | |
| NM_001346031.2:c.102-1G>A | NP_001332960.1:n.102-1G>A | |
| NM_001346032.2:c.102-1G>A | NP_001332961.1:n.102-1G>A | |
| NM_014722.5:c.102-1G>A | NP_055537.2:n.102-1G>A | |
| NM_015864.4:c.102-1G>A | NP_056948.2:n.102-1G>A | |
| NM_001286446.3:c.204-1G>A | NP_001273375.1:n.204-1G>A | |
| NM_001286447.2:c.102-1G>A | NP_001273376.1:n.102-1G>A | |
| NM_015864.5:c.102-1G>A | NP_056948.2:n.102-1G>A |