Linked Data
ClinVar Variation Id:
416113
ClinVar RCV Id:
RCV001467480
dbSNP Id:
rs377662063
ExAC:
18:29111223 A / G
gnomAD v2:
18-29111223-A-G
gnomAD v3:
18-31531260-A-G
gnomAD v4:
18-31531260-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531260A>G , CM000680.2:g.31531260A>G | GRCh38 |
| NC_000018.9:g.29111223A>G , CM000680.1:g.29111223A>G | GRCh37 |
| NC_000018.8:g.27365221A>G | NCBI36 |
| NG_007072.3:g.38019A>G , LRG_397:g.38019A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683614.2:n.1119A>G | ||
| ENST00000683614.1:c.1119A>G | ||
| ENST00000261590.13:c.1280+8A>G MANE Select | ENSP00000261590.8:n.1280+8A>G | |
| ENST00000261590.12:c.1280+8A>G | ENSP00000261590.8:n.1280+8A>G | |
| NM_001943.3:c.1280+8A>G , LRG_397t1:c.1280+8A>G | NP_001934.2:n.1280+8A>G | |
| NM_001943.4:c.1280+8A>G | NP_001934.2:n.1280+8A>G | |
| XM_024451095.1:c.746+8A>G | XP_024306863.1:n.746+8A>G | |
| NM_001943.5:c.1280+8A>G MANE Select | NP_001934.2:n.1280+8A>G |