Linked Data
ClinVar Variation Id:
261005
dbSNP Id:
rs766668907
ExAC:
17:46020668 C / G
gnomAD v2:
17-46020668-C-G
gnomAD v3:
17-47943302-C-G
gnomAD v4:
17-47943302-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47943302C>G , CM000679.2:g.47943302C>G | GRCh38 |
| NC_000017.10:g.46020668C>G , CM000679.1:g.46020668C>G | GRCh37 |
| NC_000017.9:g.43375667C>G | NCBI36 |
| NG_008744.1:g.6780C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.139-4C>G | ENSP00000225573.5:n.139-4C>G | |
| ENST00000434554.7:c.139-4C>G | ENSP00000399960.3:n.139-4C>G | |
| ENST00000582171.6:c.139-1314C>G | ENSP00000463994.1:n.139-1314C>G | |
| ENST00000583245.6:n.107-4C>G | ||
| ENST00000583599.6:c.-102-4C>G | ENSP00000463919.2:n.-102-4C>G | |
| ENST00000584061.6:c.109-4C>G | ENSP00000463972.2:n.109-4C>G | |
| ENST00000641285.1:n.43+1251C>G | ||
| ENST00000641305.1:n.214-4C>G | ||
| ENST00000641323.1:c.*158-4C>G | ENSP00000492965.1:n.*158-4C>G | |
| ENST00000641427.1:n.139-4C>G | ||
| ENST00000641511.1:c.54-4C>G | ||
| ENST00000641703.1:c.34-1314C>G | ENSP00000493219.1:n.34-1314C>G | |
| ENST00000641709.1:c.139-41C>G | ENSP00000493349.1:n.139-41C>G | |
| ENST00000641856.1:c.139-1314C>G | ENSP00000493224.1:n.139-1314C>G | |
| ENST00000642017.2:c.139-4C>G MANE Select | ENSP00000493302.2:n.139-4C>G | |
| ENST00000225573.4:c.139-4C>G | ENSP00000225573.4:n.139-4C>G | |
| ENST00000434554.6:c.139-4C>G | ENSP00000399960.2:n.139-4C>G | |
| ENST00000582171.5:c.139-1314C>G | ENSP00000463994.1:n.139-1314C>G | |
| ENST00000583245.5:c.*158-4C>G | ENSP00000463520.1:n.*158-4C>G | |
| ENST00000583599.5:c.-102-4C>G | ENSP00000463919.1:n.-102-4C>G | |
| ENST00000584061.5:c.139-41C>G | ENSP00000463972.1:n.139-41C>G | |
| ENST00000585320.5:c.139-1314C>G | ENSP00000462345.1:n.139-1314C>G | |
| NM_018129.3:c.139-4C>G | NP_060599.1:n.139-4C>G | |
| XM_005257500.2:c.-102-4C>G | XP_005257557.1:n.-102-4C>G | |
| XM_011524968.1:c.-22-1314C>G | XP_011523270.1:n.-22-1314C>G | |
| XM_005257500.3:c.-102-4C>G | XP_005257557.1:n.-102-4C>G | |
| XM_011524968.2:c.-22-1314C>G | XP_011523270.1:n.-22-1314C>G | |
| XM_017024813.1:c.-102-4C>G | XP_016880302.1:n.-102-4C>G | |
| NM_018129.4:c.139-4C>G MANE Select | NP_060599.1:n.139-4C>G |