Linked Data
ClinVar Variation Id:
1068000
ClinVar RCV Id:
RCV001379417
dbSNP Id:
rs2148216461
gnomAD v4:
2-27313111-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27313111T>C , CM000664.2:g.27313111T>C | GRCh38 |
| NC_000002.11:g.27535978T>C , CM000664.1:g.27535978T>C | GRCh37 |
| NC_000002.10:g.27389482T>C | NCBI36 |
| NG_008075.1:g.14454A>G | |
| NG_033055.1:g.153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.71-2A>G MANE Select | ENSP00000369383.1:n.71-2A>G | |
| ENST00000233545.6:c.71-2A>G | ENSP00000233545.2:n.71-2A>G | |
| ENST00000357186.10:c.19-339A>G | ENSP00000349713.6:n.19-339A>G | |
| ENST00000380044.5:c.71-2A>G | ENSP00000369383.1:n.71-2A>G | |
| ENST00000402310.5:c.71-2A>G | ENSP00000383955.1:n.71-2A>G | |
| ENST00000402722.5:c.71-37A>G | ENSP00000386000.1:n.71-37A>G | |
| ENST00000403262.6:c.71-2A>G | ENSP00000385671.1:n.71-2A>G | |
| ENST00000405076.5:c.71-2A>G | ENSP00000385175.1:n.71-2A>G | |
| ENST00000405983.5:c.114A>G | ENSP00000384586.1:p.Ile38Met | |
| ENST00000415514.5:c.228-339A>G | ENSP00000388043.1:n.228-339A>G | |
| ENST00000426513.6:c.71-37A>G | ENSP00000403824.2:n.71-37A>G | |
| ENST00000428910.5:c.-8-2A>G | ENSP00000405235.1:n.-8-2A>G | |
| ENST00000616446.1:n.46A>G | ||
| ENST00000616707.1:n.277A>G | ||
| ENST00000617583.4:n.97-2A>G | ||
| ENST00000621183.4:n.127-2A>G | ||
| ENST00000621470.4:n.122-37A>G | ||
| ENST00000622003.4:n.244-2A>G | ||
| NM_002437.4:c.71-2A>G | NP_002428.1:n.71-2A>G | |
| XM_005264326.2:c.71-2A>G | XP_005264383.1:n.71-2A>G | |
| XM_005264327.2:c.-54-37A>G | XP_005264384.1:n.-54-37A>G | |
| XM_006712021.2:c.23-2A>G | XP_006712084.1:n.23-2A>G | |
| XM_005264326.4:c.71-2A>G | XP_005264383.1:n.71-2A>G | |
| XM_006712021.3:c.23-2A>G | XP_006712084.1:n.23-2A>G | |
| XM_017004150.1:c.51A>G | XP_016859639.1:p.Ile17Met | |
| XM_017004151.1:c.23-2A>G | XP_016859640.1:n.23-2A>G | |
| XM_017004152.1:c.-54-37A>G | XP_016859641.1:n.-54-37A>G | |
| XM_024452913.1:c.23-2A>G | XP_024308681.1:n.23-2A>G | |
| NM_002437.5:c.71-2A>G MANE Select | NP_002428.1:n.71-2A>G |