Linked Data
ClinVar Variation Id:
1593041
ClinVar RCV Id:
RCV002122386
dbSNP Id:
rs1164478186
gnomAD v2:
1-17354380-G-T
gnomAD v3:
1-17027885-G-T
gnomAD v4:
1-17027885-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027885G>T , CM000663.2:g.17027885G>T | GRCh38 |
| NC_000001.10:g.17354380G>T , CM000663.1:g.17354380G>T | GRCh37 |
| NC_000001.9:g.17226967G>T | NCBI36 |
| NG_012340.1:g.31286C>A , LRG_316:g.31286C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.253-20C>A | ENSP00000481376.2:n.253-20C>A | |
| ENST00000491274.6:c.382-20C>A | ENSP00000480482.2:n.382-20C>A | |
| ENST00000375499.8:c.424-20C>A MANE Select | ENSP00000364649.3:n.424-20C>A | |
| ENST00000375499.7:c.424-20C>A | ENSP00000364649.3:n.424-20C>A | |
| ENST00000463045.2:c.253-20C>A | ENSP00000481376.1:n.253-20C>A | |
| ENST00000475506.1:n.341-20C>A | ||
| ENST00000485515.5:n.358-20C>A | ||
| ENST00000491274.5:c.382-20C>A | ENSP00000480482.1:n.382-20C>A | |
| NM_003000.2:c.424-20C>A , LRG_316t1:c.424-20C>A | NP_002991.2:n.424-20C>A | |
| NM_003000.3:c.424-20C>A MANE Select | NP_002991.2:n.424-20C>A |