Linked Data
ClinVar Variation Id:
291895
ClinVar RCV Id:
RCV000307956
dbSNP Id:
rs886045077
gnomAD v3:
1-11287557-C-T
gnomAD v4:
1-11287557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11287557C>T , CM000663.2:g.11287557C>T | GRCh38 |
| NC_000001.10:g.11347614C>T , CM000663.1:g.11347614C>T | GRCh37 |
| NC_000001.9:g.11270201C>T | NCBI36 |
| NG_009443.1:g.19360C>T | |
| NG_009443.2:g.19360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.*1426C>T MANE Select | ENSP00000366006.5:n.*1426C>T | |
| ENST00000376804.2:c.530-7316C>T | ENSP00000366000.1:n.530-7316C>T | |
| ENST00000376810.5:c.*1426C>T | ENSP00000366006.5:n.*1426C>T | |
| ENST00000483738.1:c.216+1825C>T | ENSP00000473453.1:n.216+1825C>T | |
| ENST00000486588.6:c.261+1825C>T | ENSP00000473612.1:n.261+1825C>T | |
| NM_013319.2:c.*1426C>T | NP_037451.1:n.*1426C>T | |
| XM_006710590.2:c.618+1825C>T | XP_006710653.1:n.618+1825C>T | |
| XM_011541304.1:c.530-7316C>T | XP_011539606.1:n.530-7316C>T | |
| XR_946616.1:n.952+1825C>T | ||
| NM_001330349.1:c.618+1825C>T | NP_001317278.1:n.618+1825C>T | |
| NM_001330350.1:c.530-7316C>T | NP_001317279.1:n.530-7316C>T | |
| XR_946616.3:n.952+1825C>T | ||
| NM_001330349.2:c.618+1825C>T | NP_001317278.1:n.618+1825C>T | |
| NM_001330350.2:c.530-7316C>T | NP_001317279.1:n.530-7316C>T | |
| NM_013319.3:c.*1426C>T MANE Select | NP_037451.1:n.*1426C>T |