Linked Data
ClinVar Variation Id:
1112348
ClinVar RCV Id:
RCV001439278
dbSNP Id:
rs748045101
ExAC:
17:46023970 C / G
gnomAD v2:
17-46023970-C-G
gnomAD v4:
17-47946604-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946604C>G , CM000679.2:g.47946604C>G | GRCh38 |
| NC_000017.10:g.46023970C>G , CM000679.1:g.46023970C>G | GRCh37 |
| NC_000017.9:g.43378969C>G | NCBI36 |
| NG_008744.1:g.10082C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.489-10C>G | ENSP00000225573.5:n.489-10C>G | |
| ENST00000434554.7:c.564-10C>G | ENSP00000399960.3:n.564-10C>G | |
| ENST00000582171.6:c.*283-10C>G | ENSP00000463994.1:n.*283-10C>G | |
| ENST00000583599.6:c.378-10C>G | ENSP00000463919.2:n.378-10C>G | |
| ENST00000584061.6:c.549-10C>G | ENSP00000463972.2:n.549-10C>G | |
| ENST00000584806.2:n.287-10C>G | ||
| ENST00000641285.1:n.398-10C>G | ||
| ENST00000641305.1:n.2117-10C>G | ||
| ENST00000641323.1:c.*637-10C>G | ENSP00000492965.1:n.*637-10C>G | |
| ENST00000641427.1:n.618-10C>G | ||
| ENST00000641511.1:c.350-10C>G | ||
| ENST00000641703.1:c.334-10C>G | ENSP00000493219.1:n.334-10C>G | |
| ENST00000641709.1:c.*440-10C>G | ENSP00000493349.1:n.*440-10C>G | |
| ENST00000641856.1:c.*1126-10C>G | ENSP00000493224.1:n.*1126-10C>G | |
| ENST00000642017.2:c.618-10C>G MANE Select | ENSP00000493302.2:n.618-10C>G | |
| ENST00000225573.4:c.618-10C>G | ENSP00000225573.4:n.618-10C>G | |
| ENST00000434554.6:c.489-10C>G | ENSP00000399960.2:n.489-10C>G | |
| ENST00000582171.5:c.*283-10C>G | ENSP00000463994.1:n.*283-10C>G | |
| ENST00000584806.1:n.287-10C>G | ||
| ENST00000585320.5:c.*100-10C>G | ENSP00000462345.1:n.*100-10C>G | |
| NM_018129.3:c.618-10C>G | NP_060599.1:n.618-10C>G | |
| XM_005257500.2:c.378-10C>G | XP_005257557.1:n.378-10C>G | |
| XM_011524968.1:c.333-10C>G | XP_011523270.1:n.333-10C>G | |
| XM_005257500.3:c.378-10C>G | XP_005257557.1:n.378-10C>G | |
| XM_011524968.2:c.333-10C>G | XP_011523270.1:n.333-10C>G | |
| XM_017024813.1:c.378-10C>G | XP_016880302.1:n.378-10C>G | |
| NM_018129.4:c.618-10C>G MANE Select | NP_060599.1:n.618-10C>G |