Linked Data
ClinVar Variation Id:
372146
ClinVar RCV Id:
RCV000412598
dbSNP Id:
rs1057518736
PubMed:
PMID:26264460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153798328G>A , CM000685.2:g.153798328G>A | GRCh38 |
| NC_000023.10:g.153063783G>A , CM000685.1:g.153063783G>A | GRCh37 |
| NC_000023.9:g.152716977G>A | NCBI36 |
| NG_041795.1:g.9154G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370086.8:c.418-1G>A MANE Select | ENSP00000359103.3:n.418-1G>A | |
| ENST00000320857.7:c.418-1G>A | ENSP00000317331.3:n.418-1G>A | |
| ENST00000370085.3:c.343-1G>A | ENSP00000359102.3:n.343-1G>A | |
| ENST00000370086.7:c.418-1G>A | ENSP00000359103.3:n.418-1G>A | |
| ENST00000370087.5:c.418-1G>A | ENSP00000359104.1:n.418-1G>A | |
| ENST00000447375.1:n.258-1G>A | ||
| ENST00000460616.5:n.2317G>A | ||
| ENST00000471880.5:n.621-1G>A | ||
| ENST00000482902.5:n.2245-1G>A | ||
| ENST00000485612.5:n.533-1G>A | ||
| ENST00000486204.5:n.490-1G>A | ||
| NM_001204526.1:c.451-1G>A | NP_001191455.1:n.451-1G>A | |
| NM_001204527.1:c.442-1G>A | NP_001191456.1:n.442-1G>A | |
| NM_006280.2:c.418-1G>A | NP_006271.1:n.418-1G>A | |
| NR_037927.1:n.763-1G>A | ||
| XM_011531186.1:c.418-1G>A | XP_011529488.1:n.418-1G>A | |
| XM_011531187.1:c.418-1G>A | XP_011529489.1:n.418-1G>A | |
| XM_017029756.1:c.229-1G>A | XP_016885245.1:n.229-1G>A | |
| XM_017029757.1:c.229-1G>A | XP_016885246.1:n.229-1G>A | |
| XM_024452428.1:c.229-1G>A | XP_024308196.1:n.229-1G>A | |
| NM_001204527.2:c.442-1G>A | NP_001191456.1:n.442-1G>A | |
| NM_006280.3:c.418-1G>A MANE Select | NP_006271.1:n.418-1G>A |