Linked Data
ClinVar Variation Id:
44331
ClinVar RCV Id:
RCV001705672
dbSNP Id:
rs2230234
ExAC:
18:29104714 A / G
gnomAD v2:
18-29104714-A-G
gnomAD v3:
18-31524751-A-G
gnomAD v4:
18-31524751-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524751A>G , CM000680.2:g.31524751A>G | GRCh38 |
| NC_000018.9:g.29104714A>G , CM000680.1:g.29104714A>G | GRCh37 |
| NC_000018.8:g.27358712A>G | NCBI36 |
| NG_007072.3:g.31510A>G , LRG_397:g.31510A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.708A>G | ||
| ENST00000683614.2:n.708A>G | ||
| ENST00000682087.1:c.708A>G | ||
| ENST00000683614.1:c.708A>G | ||
| ENST00000261590.13:c.877A>G MANE Select | ENSP00000261590.8:p.Ile293Val | |
| ENST00000261590.12:c.877A>G | ENSP00000261590.8:p.Ile293Val | |
| NM_001943.3:c.877A>G , LRG_397t1:c.877A>G | NP_001934.2:p.Ile293Val | |
| NM_001943.4:c.877A>G | NP_001934.2:p.Ile293Val | |
| XM_024451095.1:c.343A>G | XP_024306863.1:p.Ile115Val | |
| NM_001943.5:c.877A>G MANE Select | NP_001934.2:p.Ile293Val |