Linked Data
ClinVar Variation Id:
330743
dbSNP Id:
rs11683694
ExAC:
2:112702647 C / T
gnomAD v2:
2-112702647-C-T
gnomAD v3:
2-111945070-C-T
gnomAD v4:
2-111945070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111945070C>T , CM000664.2:g.111945070C>T | GRCh38 |
| NC_000002.11:g.112702647C>T , CM000664.1:g.112702647C>T | GRCh37 |
| NC_000002.10:g.112419118C>T | NCBI36 |
| NG_011607.1:g.51457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.583+10C>T MANE Select | ENSP00000295408.4:n.583+10C>T | |
| ENST00000295408.8:c.583+10C>T | ENSP00000295408.4:n.583+10C>T | |
| ENST00000409780.5:c.55+10C>T | ENSP00000387277.1:n.55+10C>T | |
| ENST00000421804.6:c.583+10C>T | ENSP00000389152.2:n.583+10C>T | |
| ENST00000439966.5:c.*56+10C>T | ENSP00000402129.1:n.*56+10C>T | |
| ENST00000616902.4:c.-633+10C>T | ENSP00000482824.1:n.-633+10C>T | |
| NM_006343.2:c.583+10C>T | NP_006334.2:n.583+10C>T | |
| XM_005263565.3:c.583+10C>T | XP_005263622.1:n.583+10C>T | |
| XM_005263568.3:c.583+10C>T | XP_005263625.1:n.583+10C>T | |
| XM_011510490.1:c.394+10C>T | XP_011508792.1:n.394+10C>T | |
| XM_005263565.4:c.583+10C>T | XP_005263622.1:n.583+10C>T | |
| XM_005263568.4:c.583+10C>T | XP_005263625.1:n.583+10C>T | |
| XM_011510490.3:c.394+10C>T | XP_011508792.1:n.394+10C>T | |
| XM_017003164.1:c.394+10C>T | XP_016858653.1:n.394+10C>T | |
| XM_017003165.2:c.-685+10C>T | XP_016858654.1:n.-685+10C>T | |
| NM_006343.3:c.583+10C>T MANE Select | NP_006334.2:n.583+10C>T |