Linked Data
ClinVar Variation Id:
5403
dbSNP Id:
rs371956016
ExAC:
2:112777100 G / T
gnomAD v2:
2-112777100-G-T
gnomAD v3:
2-112019523-G-T
gnomAD v4:
2-112019523-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112019523G>T , CM000664.2:g.112019523G>T | GRCh38 |
| NC_000002.11:g.112777100G>T , CM000664.1:g.112777100G>T | GRCh37 |
| NC_000002.10:g.112493571G>T | NCBI36 |
| NG_011607.1:g.125910G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.2189+1G>T MANE Select | ENSP00000295408.4:n.2189+1G>T | |
| ENST00000295408.8:c.2189+1G>T | ENSP00000295408.4:n.2189+1G>T | |
| ENST00000409780.5:c.1661+1G>T | ENSP00000387277.1:n.1661+1G>T | |
| ENST00000421804.6:c.2189+1G>T | ENSP00000389152.2:n.2189+1G>T | |
| ENST00000439966.5:c.*1662+1G>T | ENSP00000402129.1:n.*1662+1G>T | |
| ENST00000449344.2:c.110+1G>T | ENSP00000412660.2:n.110+1G>T | |
| ENST00000616902.4:c.1145+1G>T | ENSP00000482824.1:n.1145+1G>T | |
| NM_006343.2:c.2189+1G>T | NP_006334.2:n.2189+1G>T | |
| XM_005263565.3:c.2189+1G>T | XP_005263622.1:n.2189+1G>T | |
| XM_005263568.3:c.2189+1G>T | XP_005263625.1:n.2189+1G>T | |
| XM_011510490.1:c.2000+1G>T | XP_011508792.1:n.2000+1G>T | |
| XM_011510491.1:c.974+1G>T | XP_011508793.1:n.974+1G>T | |
| XM_005263565.4:c.2189+1G>T | XP_005263622.1:n.2189+1G>T | |
| XM_005263568.4:c.2189+1G>T | XP_005263625.1:n.2189+1G>T | |
| XM_011510490.3:c.2000+1G>T | XP_011508792.1:n.2000+1G>T | |
| XM_017003164.1:c.2000+1G>T | XP_016858653.1:n.2000+1G>T | |
| XM_017003165.2:c.974+1G>T | XP_016858654.1:n.974+1G>T | |
| NM_006343.3:c.2189+1G>T MANE Select | NP_006334.2:n.2189+1G>T |