Linked Data
ClinVar Variation Id:
1051485
ClinVar RCV Id:
RCV001359531
dbSNP Id:
rs1326333007
gnomAD v2:
1-17350462-C-T
gnomAD v3:
1-17023967-C-T
gnomAD v4:
1-17023967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17023967C>T , CM000663.2:g.17023967C>T | GRCh38 |
| NC_000001.10:g.17350462C>T , CM000663.1:g.17350462C>T | GRCh37 |
| NC_000001.9:g.17223049C>T | NCBI36 |
| NG_012340.1:g.35204G>A , LRG_316:g.35204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.471+6G>A | ENSP00000481376.2:n.471+6G>A | |
| ENST00000491274.6:c.600+6G>A | ENSP00000480482.2:n.600+6G>A | |
| ENST00000375499.8:c.642+6G>A MANE Select | ENSP00000364649.3:n.642+6G>A | |
| ENST00000375499.7:c.642+6G>A | ENSP00000364649.3:n.642+6G>A | |
| ENST00000485515.5:n.576+6G>A | ||
| NM_003000.2:c.642+6G>A , LRG_316t1:c.642+6G>A | NP_002991.2:n.642+6G>A | |
| NM_003000.3:c.642+6G>A MANE Select | NP_002991.2:n.642+6G>A |