Linked Data
ClinVar Variation Id:
1671064
ClinVar RCV Id:
RCV002196435
dbSNP Id:
rs1233279059
gnomAD v2:
1-17349087-C-T
gnomAD v4:
1-17022592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022592C>T , CM000663.2:g.17022592C>T | GRCh38 |
| NC_000001.10:g.17349087C>T , CM000663.1:g.17349087C>T | GRCh37 |
| NC_000001.9:g.17221674C>T | NCBI36 |
| NG_012340.1:g.36579G>A , LRG_316:g.36579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.594+16G>A | ENSP00000481376.2:n.594+16G>A | |
| ENST00000491274.6:c.723+16G>A | ENSP00000480482.2:n.723+16G>A | |
| ENST00000375499.8:c.765+16G>A MANE Select | ENSP00000364649.3:n.765+16G>A | |
| ENST00000375499.7:c.765+16G>A | ENSP00000364649.3:n.765+16G>A | |
| ENST00000475049.5:n.190+16G>A | ||
| ENST00000485092.5:n.429+16G>A | ||
| NM_003000.2:c.765+16G>A , LRG_316t1:c.765+16G>A | NP_002991.2:n.765+16G>A | |
| NM_003000.3:c.765+16G>A MANE Select | NP_002991.2:n.765+16G>A |