Linked Data
ClinVar Variation Id:
155785
ClinVar RCV Id:
RCV000143882
dbSNP Id:
rs587782939
gnomAD v3:
18-31524889-G-A
gnomAD v4:
18-31524889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524889G>A , CM000680.2:g.31524889G>A | GRCh38 |
| NC_000018.9:g.29104852G>A , CM000680.1:g.29104852G>A | GRCh37 |
| NC_000018.8:g.27358850G>A | NCBI36 |
| NG_007072.3:g.31648G>A , LRG_397:g.31648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.846G>A | ||
| ENST00000683614.2:n.845+1G>A | ||
| ENST00000682087.1:c.846G>A | ||
| ENST00000683614.1:c.845+1G>A | ||
| ENST00000261590.13:c.1014+1G>A MANE Select | ENSP00000261590.8:n.1014+1G>A | |
| ENST00000261590.12:c.1014+1G>A | ENSP00000261590.8:n.1014+1G>A | |
| NM_001943.3:c.1014+1G>A , LRG_397t1:c.1014+1G>A | NP_001934.2:n.1014+1G>A | |
| NM_001943.4:c.1014+1G>A | NP_001934.2:n.1014+1G>A | |
| XM_024451095.1:c.480+1G>A | XP_024306863.1:n.480+1G>A | |
| NM_001943.5:c.1014+1G>A MANE Select | NP_001934.2:n.1014+1G>A |