Linked Data
ClinVar Variation Id:
1545615
dbSNP Id:
rs201807738
ExAC:
1:45966012 C / G
gnomAD v2:
1-45966012-C-G
gnomAD v3:
1-45500340-C-G
gnomAD v4:
1-45500340-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500340C>G , CM000663.2:g.45500340C>G | GRCh38 |
| NC_000001.10:g.45966012C>G , CM000663.1:g.45966012C>G | GRCh37 |
| NC_000001.9:g.45738599C>G | NCBI36 |
| NG_013378.1:g.5157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.8C>G MANE Select | ENSP00000383840.4:p.Pro3Arg | |
| ENST00000401061.8:c.8C>G | ENSP00000383840.4:p.Pro3Arg | |
| NM_015506.2:c.8C>G | NP_056321.2:p.Pro3Arg | |
| XM_005270724.3:c.8C>G | XP_005270781.1:p.Pro3Arg | |
| XM_011541204.1:c.-215C>G | XP_011539506.1:n.-215C>G | |
| NM_001330540.1:c.-215C>G | NP_001317469.1:n.-215C>G | |
| XM_005270724.5:c.8C>G | XP_005270781.1:p.Pro3Arg | |
| NM_015506.3:c.8C>G MANE Select | NP_056321.2:p.Pro3Arg | |
| NM_001330540.2:c.-215C>G | NP_001317469.1:n.-215C>G |