Linked Data
ClinVar Variation Id:
387355
dbSNP Id:
rs201202659
ExAC:
2:27532768 A / C
gnomAD v2:
2-27532768-A-C
gnomAD v3:
2-27309900-A-C
gnomAD v4:
2-27309900-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27309900A>C , CM000664.2:g.27309900A>C | GRCh38 |
| NC_000002.11:g.27532768A>C , CM000664.1:g.27532768A>C | GRCh37 |
| NC_000002.10:g.27386272A>C | NCBI36 |
| NG_008075.1:g.17664T>G | |
| NG_033055.1:g.3363T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.*12T>G MANE Select | ENSP00000369383.1:n.*12T>G | |
| ENST00000233545.6:c.*12T>G | ENSP00000233545.2:n.*12T>G | |
| ENST00000357186.10:c.*12T>G | ENSP00000349713.6:n.*12T>G | |
| ENST00000380044.5:c.*12T>G | ENSP00000369383.1:n.*12T>G | |
| ENST00000402310.5:c.490T>G | ENSP00000383955.1:p.Ser164Ala | |
| ENST00000402722.5:c.*122T>G | ENSP00000386000.1:n.*122T>G | |
| ENST00000405076.5:c.*12T>G | ENSP00000385175.1:n.*12T>G | |
| ENST00000405983.5:c.*12T>G | ENSP00000384586.1:n.*12T>G | |
| ENST00000426513.6:c.*208T>G | ENSP00000403824.2:n.*208T>G | |
| ENST00000430991.5:c.377T>G | ||
| ENST00000620797.4:n.216T>G | ||
| ENST00000621183.4:n.846T>G | ||
| NM_002437.4:c.*12T>G | NP_002428.1:n.*12T>G | |
| XM_005264326.2:c.*12T>G | XP_005264383.1:n.*12T>G | |
| XM_005264327.2:c.*12T>G | XP_005264384.1:n.*12T>G | |
| XM_006712021.2:c.*12T>G | XP_006712084.1:n.*12T>G | |
| XM_005264326.4:c.*12T>G | XP_005264383.1:n.*12T>G | |
| XM_006712021.3:c.*12T>G | XP_006712084.1:n.*12T>G | |
| XM_017004150.1:c.*12T>G | XP_016859639.1:n.*12T>G | |
| XM_017004151.1:c.*12T>G | XP_016859640.1:n.*12T>G | |
| XM_017004152.1:c.*12T>G | XP_016859641.1:n.*12T>G | |
| XM_024452913.1:c.*12T>G | XP_024308681.1:n.*12T>G | |
| NM_002437.5:c.*12T>G MANE Select | NP_002428.1:n.*12T>G |