Linked Data
ClinVar Variation Id:
1246301
ClinVar RCV Id:
RCV001654393
dbSNP Id:
rs1270942
gnomAD v2:
6-31918860-A-G
gnomAD v3:
6-31951083-A-G
gnomAD v4:
6-31951083-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31951083A>G , CM000668.2:g.31951083A>G | GRCh38 |
| NC_000006.11:g.31918860A>G , CM000668.1:g.31918860A>G | GRCh37 |
| NC_000006.10:g.32026839A>G | NCBI36 |
| NG_008191.1:g.10140A>G , LRG_136:g.10140A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.2343-114A>G | ||
| ENST00000483004.2:c.1640-61A>G | ENSP00000419887.2:n.1640-61A>G | |
| ENST00000698628.1:c.1625-61A>G | ENSP00000513848.1:n.1625-61A>G | |
| ENST00000698629.1:n.2128-114A>G | ||
| ENST00000698630.1:n.2572-61A>G | ||
| ENST00000698631.1:n.2573-61A>G | ||
| ENST00000698632.1:n.3600A>G | ||
| ENST00000698633.1:n.3490A>G | ||
| ENST00000425368.7:c.1856-61A>G MANE Select | ENSP00000416561.2:n.1856-61A>G | |
| ENST00000425368.6:c.1856-61A>G | ENSP00000416561.2:n.1856-61A>G | |
| ENST00000456570.5:c.3362-61A>G | ENSP00000410815.1:n.3362-61A>G | |
| ENST00000467360.1:n.982-61A>G | ||
| ENST00000477310.1:c.2909-61A>G | ENSP00000418996.1:n.2909-61A>G | |
| ENST00000482312.1:n.210A>G | ||
| ENST00000483004.1:c.478-61A>G | ||
| NM_001710.5:c.1856-61A>G , LRG_136t1:c.1856-61A>G | NP_001701.2:n.1856-61A>G | |
| NM_001710.6:c.1856-61A>G MANE Select | NP_001701.2:n.1856-61A>G |