Linked Data
ClinVar Variation Id:
1294620
ClinVar RCV Id:
RCV001720524
dbSNP Id:
rs691674
ExAC:
17:76424502 C / G
gnomAD v2:
17-76424502-C-G
gnomAD v3:
17-78428421-C-G
gnomAD v4:
17-78428421-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78428421C>G , CM000679.2:g.78428421C>G | GRCh38 |
| NC_000017.10:g.76424502C>G , CM000679.1:g.76424502C>G | GRCh37 |
| NC_000017.9:g.73936097C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12588+104G>C MANE Select | ENSP00000374490.6:n.12588+104G>C | |
| ENST00000389840.6:c.12588+104G>C | ENSP00000374490.6:n.12588+104G>C | |
| ENST00000585328.5:c.12573+104G>C | ENSP00000465516.1:n.12573+104G>C | |
| ENST00000586052.5:n.5724+104G>C | ||
| ENST00000586850.1:n.120+700G>C | ||
| ENST00000590227.5:n.2262+104G>C | ||
| ENST00000591369.5:c.4190+104G>C | ||
| ENST00000592192.2:n.131G>C | ||
| NM_173628.3:c.12588+104G>C | NP_775899.3:n.12588+104G>C | |
| XM_011525416.1:c.12600+104G>C | XP_011523718.1:n.12600+104G>C | |
| XM_011525418.1:c.5967+104G>C | XP_011523720.1:n.5967+104G>C | |
| XM_011525416.2:c.12600+104G>C | XP_011523718.1:n.12600+104G>C | |
| XM_017025261.2:c.5934+104G>C | XP_016880750.1:n.5934+104G>C | |
| XM_024451013.1:c.12456+104G>C | XP_024306781.1:n.12456+104G>C | |
| NM_173628.4:c.12588+104G>C MANE Select | NP_775899.3:n.12588+104G>C |