Linked Data
ClinVar Variation Id:
2915295
ClinVar RCV Id:
RCV003736009
dbSNP Id:
rs764679233
ExAC:
2:27535844 T / C
gnomAD v2:
2-27535844-T-C
gnomAD v4:
2-27312977-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312977T>C , CM000664.2:g.27312977T>C | GRCh38 |
| NC_000002.11:g.27535844T>C , CM000664.1:g.27535844T>C | GRCh37 |
| NC_000002.10:g.27389348T>C | NCBI36 |
| NG_008075.1:g.14588A>G | |
| NG_033055.1:g.287A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.186+17A>G MANE Select | ENSP00000369383.1:n.186+17A>G | |
| ENST00000233545.6:c.186+17A>G | ENSP00000233545.2:n.186+17A>G | |
| ENST00000357186.10:c.19-205A>G | ENSP00000349713.6:n.19-205A>G | |
| ENST00000380044.5:c.186+17A>G | ENSP00000369383.1:n.186+17A>G | |
| ENST00000402310.5:c.186+17A>G | ENSP00000383955.1:n.186+17A>G | |
| ENST00000402722.5:c.151+17A>G | ENSP00000386000.1:n.151+17A>G | |
| ENST00000403262.6:c.186+17A>G | ENSP00000385671.1:n.186+17A>G | |
| ENST00000405076.5:c.186+17A>G | ENSP00000385175.1:n.186+17A>G | |
| ENST00000405983.5:c.231+17A>G | ENSP00000384586.1:n.231+17A>G | |
| ENST00000415514.5:c.228-205A>G | ENSP00000388043.1:n.228-205A>G | |
| ENST00000426513.6:c.151+17A>G | ENSP00000403824.2:n.151+17A>G | |
| ENST00000428910.5:c.108+17A>G | ENSP00000405235.1:n.108+17A>G | |
| ENST00000430991.5:c.116+17A>G | ||
| ENST00000475085.1:n.10A>G | ||
| ENST00000616446.1:n.163+17A>G | ||
| ENST00000616707.1:n.411A>G | ||
| ENST00000617583.4:n.212+17A>G | ||
| ENST00000621183.4:n.242+17A>G | ||
| ENST00000621470.4:n.202+17A>G | ||
| ENST00000622003.4:n.359+17A>G | ||
| NM_002437.4:c.186+17A>G | NP_002428.1:n.186+17A>G | |
| XM_005264326.2:c.186+17A>G | XP_005264383.1:n.186+17A>G | |
| XM_005264327.2:c.27+17A>G | XP_005264384.1:n.27+17A>G | |
| XM_006712021.2:c.138+17A>G | XP_006712084.1:n.138+17A>G | |
| XM_005264326.4:c.186+17A>G | XP_005264383.1:n.186+17A>G | |
| XM_006712021.3:c.138+17A>G | XP_006712084.1:n.138+17A>G | |
| XM_017004150.1:c.168+17A>G | XP_016859639.1:n.168+17A>G | |
| XM_017004151.1:c.138+17A>G | XP_016859640.1:n.138+17A>G | |
| XM_017004152.1:c.27+17A>G | XP_016859641.1:n.27+17A>G | |
| XM_024452913.1:c.138+17A>G | XP_024308681.1:n.138+17A>G | |
| NM_002437.5:c.186+17A>G MANE Select | NP_002428.1:n.186+17A>G |