Linked Data
ClinVar Variation Id:
1608793
ClinVar RCV Id:
RCV002163007
dbSNP Id:
rs765877825
ExAC:
8:118847675 T / C
gnomAD v2:
8-118847675-T-C
gnomAD v4:
8-117835436-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835436T>C , CM000670.2:g.117835436T>C | GRCh38 |
| NC_000008.10:g.118847675T>C , CM000670.1:g.118847675T>C | GRCh37 |
| NC_000008.9:g.118916856T>C | NCBI36 |
| NG_007455.2:g.281384A>G , LRG_493:g.281384A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.631+8A>G | ||
| ENST00000378204.7:c.1164+8A>G MANE Select | ENSP00000367446.3:n.1164+8A>G | |
| ENST00000436216.2:c.532+8A>G | ||
| ENST00000378204.6:c.1164+8A>G | ENSP00000367446.2:n.1164+8A>G | |
| ENST00000436216.1:c.532+8A>G | ||
| ENST00000437196.1:c.*55+8A>G | ENSP00000407299.1:n.*55+8A>G | |
| NM_000127.2:c.1164+8A>G , LRG_493t1:c.1164+8A>G | NP_000118.2:n.1164+8A>G | |
| NM_000127.3:c.1164+8A>G MANE Select | NP_000118.2:n.1164+8A>G |