Linked Data
ClinVar Variation Id:
1517061
ClinVar RCV Id:
RCV002027069
dbSNP Id:
rs780850548
ExAC:
7:94033893 C / G
gnomAD v2:
7-94033893-C-G
gnomAD v4:
7-94404581-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404581C>G , CM000669.2:g.94404581C>G | GRCh38 |
| NC_000007.13:g.94033893C>G , CM000669.1:g.94033893C>G | GRCh37 |
| NC_000007.12:g.93871829C>G | NCBI36 |
| NG_007405.1:g.15021C>G , LRG_2:g.15021C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.305C>G MANE Select | ENSP00000297268.6:p.Pro102Arg | |
| ENST00000297268.10:c.305C>G | ENSP00000297268.6:p.Pro102Arg | |
| ENST00000620463.1:c.299C>G | ENSP00000477719.1:p.Pro100Arg | |
| NM_000089.3:c.305C>G , LRG_2t1:c.305C>G | NP_000080.2:p.Pro102Arg | |
| NM_000089.4:c.305C>G MANE Select | NP_000080.2:p.Pro102Arg |