Linked Data
ClinVar Variation Id:
2920590
ClinVar RCV Id:
RCV003602044
dbSNP Id:
rs1302063318
gnomAD v3:
1-45500426-C-G
gnomAD v4:
1-45500426-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500426C>G , CM000663.2:g.45500426C>G | GRCh38 |
| NC_000001.10:g.45966098C>G , CM000663.1:g.45966098C>G | GRCh37 |
| NC_000001.9:g.45738685C>G | NCBI36 |
| NG_013378.1:g.5243C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.81+13C>G MANE Select | ENSP00000383840.4:n.81+13C>G | |
| ENST00000401061.8:c.81+13C>G | ENSP00000383840.4:n.81+13C>G | |
| ENST00000616135.1:c.-91+13C>G | ENSP00000478859.1:n.-91+13C>G | |
| NM_015506.2:c.81+13C>G | NP_056321.2:n.81+13C>G | |
| XM_005270724.3:c.81+13C>G | XP_005270781.1:n.81+13C>G | |
| XM_011541204.1:c.-142+13C>G | XP_011539506.1:n.-142+13C>G | |
| NM_001330540.1:c.-142+13C>G | NP_001317469.1:n.-142+13C>G | |
| XM_005270724.5:c.81+13C>G | XP_005270781.1:n.81+13C>G | |
| NM_015506.3:c.81+13C>G MANE Select | NP_056321.2:n.81+13C>G | |
| NM_001330540.2:c.-142+13C>G | NP_001317469.1:n.-142+13C>G |