Linked Data
ClinVar Variation Id:
528755
ClinVar RCV Id:
RCV000633983
dbSNP Id:
rs780427803
ExAC:
1:17350458 A / G
gnomAD v2:
1-17350458-A-G
gnomAD v4:
1-17023963-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17023963A>G , CM000663.2:g.17023963A>G | GRCh38 |
| NC_000001.10:g.17350458A>G , CM000663.1:g.17350458A>G | GRCh37 |
| NC_000001.9:g.17223045A>G | NCBI36 |
| NG_012340.1:g.35208T>C , LRG_316:g.35208T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.471+10T>C | ENSP00000481376.2:n.471+10T>C | |
| ENST00000491274.6:c.600+10T>C | ENSP00000480482.2:n.600+10T>C | |
| ENST00000375499.8:c.642+10T>C MANE Select | ENSP00000364649.3:n.642+10T>C | |
| ENST00000375499.7:c.642+10T>C | ENSP00000364649.3:n.642+10T>C | |
| ENST00000485515.5:n.576+10T>C | ||
| NM_003000.2:c.642+10T>C , LRG_316t1:c.642+10T>C | NP_002991.2:n.642+10T>C | |
| NM_003000.3:c.642+10T>C MANE Select | NP_002991.2:n.642+10T>C |