Linked Data
ClinVar Variation Id:
424255
dbSNP Id:
rs749361266
ExAC:
2:27535081 C / T
gnomAD v2:
2-27535081-C-T
gnomAD v4:
2-27312213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312213C>T , CM000664.2:g.27312213C>T | GRCh38 |
| NC_000002.11:g.27535081C>T , CM000664.1:g.27535081C>T | GRCh37 |
| NC_000002.10:g.27388585C>T | NCBI36 |
| NG_008075.1:g.15351G>A | |
| NG_033055.1:g.1050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.408+1G>A MANE Select | ENSP00000369383.1:n.408+1G>A | |
| ENST00000233545.6:c.408+1G>A | ENSP00000233545.2:n.408+1G>A | |
| ENST00000357186.10:c.240+1G>A | ENSP00000349713.6:n.240+1G>A | |
| ENST00000380044.5:c.408+1G>A | ENSP00000369383.1:n.408+1G>A | |
| ENST00000402310.5:c.408+1G>A | ENSP00000383955.1:n.408+1G>A | |
| ENST00000402722.5:c.*40+281G>A | ENSP00000386000.1:n.*40+281G>A | |
| ENST00000403262.6:c.408+1G>A | ENSP00000385671.1:n.408+1G>A | |
| ENST00000405076.5:c.219+1G>A | ENSP00000385175.1:n.219+1G>A | |
| ENST00000405983.5:c.453+1G>A | ENSP00000384586.1:n.453+1G>A | |
| ENST00000415514.5:c.*209+1G>A | ENSP00000388043.1:n.*209+1G>A | |
| ENST00000426513.6:c.*73+1G>A | ENSP00000403824.2:n.*73+1G>A | |
| ENST00000428910.5:c.330+1G>A | ENSP00000405235.1:n.330+1G>A | |
| ENST00000430991.5:c.242+1G>A | ||
| ENST00000475085.1:n.437G>A | ||
| ENST00000616707.1:n.1175G>A | ||
| ENST00000617583.4:n.682G>A | ||
| ENST00000620797.4:n.81+1G>A | ||
| ENST00000621183.4:n.711+1G>A | ||
| NM_002437.4:c.408+1G>A | NP_002428.1:n.408+1G>A | |
| XM_005264326.2:c.408+1G>A | XP_005264383.1:n.408+1G>A | |
| XM_005264327.2:c.249+1G>A | XP_005264384.1:n.249+1G>A | |
| XM_006712021.2:c.360+1G>A | XP_006712084.1:n.360+1G>A | |
| XM_005264326.4:c.408+1G>A | XP_005264383.1:n.408+1G>A | |
| XM_006712021.3:c.360+1G>A | XP_006712084.1:n.360+1G>A | |
| XM_017004150.1:c.390+1G>A | XP_016859639.1:n.390+1G>A | |
| XM_017004151.1:c.360+1G>A | XP_016859640.1:n.360+1G>A | |
| XM_017004152.1:c.249+1G>A | XP_016859641.1:n.249+1G>A | |
| XM_024452913.1:c.360+1G>A | XP_024308681.1:n.360+1G>A | |
| NM_002437.5:c.408+1G>A MANE Select | NP_002428.1:n.408+1G>A |