Linked Data
ClinVar Variation Id:
188450
ClinVar RCV Id:
RCV002336383
dbSNP Id:
rs553299589
ExAC:
18:29101207 G / C
gnomAD v2:
18-29101207-G-C
gnomAD v3:
18-31521244-G-C
gnomAD v4:
18-31521244-G-C
PubMed:
PMID:26822237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31521244G>C , CM000680.2:g.31521244G>C | GRCh38 |
| NC_000018.9:g.29101207G>C , CM000680.1:g.29101207G>C | GRCh37 |
| NC_000018.8:g.27355205G>C | NCBI36 |
| NG_007072.3:g.28003G>C , LRG_397:g.28003G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.354+1G>C | ||
| ENST00000682241.2:c.523+1G>C | ENSP00000507600.2:n.523+1G>C | |
| ENST00000683614.2:n.354+1G>C | ||
| ENST00000682087.1:c.354+1G>C | ||
| ENST00000682241.1:c.354+1G>C | ||
| ENST00000683614.1:c.354+1G>C | ||
| ENST00000683654.1:c.523+1G>C | ENSP00000506971.1:n.523+1G>C | |
| ENST00000684461.1:n.355G>C | ||
| ENST00000261590.13:c.523+1G>C MANE Select | ENSP00000261590.8:n.523+1G>C | |
| ENST00000261590.12:c.523+1G>C | ENSP00000261590.8:n.523+1G>C | |
| ENST00000585206.1:c.523+1G>C | ENSP00000462503.1:n.523+1G>C | |
| NM_001943.3:c.523+1G>C , LRG_397t1:c.523+1G>C | NP_001934.2:n.523+1G>C | |
| NM_001943.4:c.523+1G>C | NP_001934.2:n.523+1G>C | |
| XM_024451095.1:c.-12+1G>C | XP_024306863.1:n.-12+1G>C | |
| NM_001943.5:c.523+1G>C MANE Select | NP_001934.2:n.523+1G>C |