Linked Data
ClinVar Variation Id:
510005
ClinVar RCV Id:
RCV000612591
dbSNP Id:
rs1405523432
gnomAD v2:
15-42651979-G-C
gnomAD v3:
15-42359781-G-C
gnomAD v4:
15-42359781-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42359781G>C , CM000677.2:g.42359781G>C | GRCh38 |
| NC_000015.9:g.42651979G>C , CM000677.1:g.42651979G>C | GRCh37 |
| NC_000015.8:g.40439271G>C | NCBI36 |
| NG_008660.1:g.16679G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.-25G>C | ENSP00000183936.4:n.-25G>C | |
| ENST00000357568.8:c.-25G>C | ENSP00000350181.3:n.-25G>C | |
| ENST00000397163.8:c.-25G>C MANE Select | ENSP00000380349.3:n.-25G>C | |
| ENST00000466369.5:n.540+5328G>C | ||
| ENST00000483208.5:n.540+5328G>C | ||
| ENST00000495723.1:n.540+5328G>C | ||
| ENST00000549793.5:n.540+5328G>C | ||
| ENST00000318023.11:c.-25G>C | ENSP00000326281.8:n.-25G>C | |
| ENST00000349748.7:c.-25G>C | ENSP00000183936.4:n.-25G>C | |
| ENST00000357568.7:c.-25G>C | ENSP00000350181.3:n.-25G>C | |
| ENST00000397163.7:c.-25G>C | ENSP00000380349.3:n.-25G>C | |
| NM_000070.2:c.-25G>C | NP_000061.1:n.-25G>C | |
| NM_024344.1:c.-25G>C | NP_077320.1:n.-25G>C | |
| NM_173087.1:c.-25G>C | NP_775110.1:n.-25G>C | |
| NM_000070.3:c.-25G>C MANE Select | NP_000061.1:n.-25G>C | |
| NM_024344.2:c.-25G>C | NP_077320.1:n.-25G>C | |
| NM_173087.2:c.-25G>C | NP_775110.1:n.-25G>C |