Linked Data
ClinVar Variation Id:
2060521
ClinVar RCV Id:
RCV002947781
dbSNP Id:
rs1160578491
gnomAD v2:
1-17354233-G-C
gnomAD v3:
1-17027738-G-C
gnomAD v4:
1-17027738-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027738G>C , CM000663.2:g.17027738G>C | GRCh38 |
| NC_000001.10:g.17354233G>C , CM000663.1:g.17354233G>C | GRCh37 |
| NC_000001.9:g.17226820G>C | NCBI36 |
| NG_012340.1:g.31433C>G , LRG_316:g.31433C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.369+11C>G | ENSP00000481376.2:n.369+11C>G | |
| ENST00000491274.6:c.498+11C>G | ENSP00000480482.2:n.498+11C>G | |
| ENST00000375499.8:c.540+11C>G MANE Select | ENSP00000364649.3:n.540+11C>G | |
| ENST00000375499.7:c.540+11C>G | ENSP00000364649.3:n.540+11C>G | |
| ENST00000475506.1:n.468C>G | ||
| ENST00000485515.5:n.474+11C>G | ||
| ENST00000491274.5:c.498+11C>G | ENSP00000480482.1:n.498+11C>G | |
| NM_003000.2:c.540+11C>G , LRG_316t1:c.540+11C>G | NP_002991.2:n.540+11C>G | |
| NM_003000.3:c.540+11C>G MANE Select | NP_002991.2:n.540+11C>G |