Linked Data
ClinVar Variation Id:
2795033
ClinVar RCV Id:
RCV003609558
dbSNP Id:
rs1885037773
gnomAD v4:
14-87945546-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945546A>G , CM000676.2:g.87945546A>G | GRCh38 |
| NC_000014.8:g.88411890A>G , CM000676.1:g.88411890A>G | GRCh37 |
| NC_000014.7:g.87481643A>G | NCBI36 |
| NG_011853.2:g.53018T>C | |
| NG_011853.3:g.53018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1670+7T>C MANE Select | ENSP00000261304.2:n.1670+7T>C | |
| ENST00000261304.6:c.1670+7T>C | ENSP00000261304.2:n.1670+7T>C | |
| ENST00000393568.8:c.1601+7T>C | ENSP00000377198.4:n.1601+7T>C | |
| ENST00000393569.6:c.1592+7T>C | ENSP00000377199.2:n.1592+7T>C | |
| ENST00000544807.6:c.1502+7T>C | ENSP00000437513.2:n.1502+7T>C | |
| ENST00000555000.5:c.1037+7T>C | ENSP00000450472.1:n.1037+7T>C | |
| ENST00000555179.1:c.206+2182T>C | ||
| ENST00000557316.5:c.*1068+7T>C | ENSP00000452314.1:n.*1068+7T>C | |
| NM_000153.3:c.1670+7T>C | NP_000144.2:n.1670+7T>C | |
| NM_001201401.1:c.1601+7T>C | NP_001188330.1:n.1601+7T>C | |
| NM_001201402.1:c.1592+7T>C | NP_001188331.1:n.1592+7T>C | |
| XM_011536618.1:c.1502+7T>C | XP_011534920.1:n.1502+7T>C | |
| XM_011536618.2:c.1502+7T>C | XP_011534920.1:n.1502+7T>C | |
| NM_000153.4:c.1670+7T>C MANE Select | NP_000144.2:n.1670+7T>C | |
| NM_001201401.2:c.1601+7T>C | NP_001188330.1:n.1601+7T>C | |
| NM_001201402.2:c.1592+7T>C | NP_001188331.1:n.1592+7T>C |