Linked Data
ClinVar Variation Id:
451056
dbSNP Id:
rs745763739
ExAC:
18:29104810 A / G
gnomAD v2:
18-29104810-A-G
gnomAD v3:
18-31524847-A-G
gnomAD v4:
18-31524847-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524847A>G , CM000680.2:g.31524847A>G | GRCh38 |
| NC_000018.9:g.29104810A>G , CM000680.1:g.29104810A>G | GRCh37 |
| NC_000018.8:g.27358808A>G | NCBI36 |
| NG_007072.3:g.31606A>G , LRG_397:g.31606A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.804A>G | ||
| ENST00000683614.2:n.804A>G | ||
| ENST00000682087.1:c.804A>G | ||
| ENST00000683614.1:c.804A>G | ||
| ENST00000261590.13:c.973A>G MANE Select | ENSP00000261590.8:p.Thr325Ala | |
| ENST00000261590.12:c.973A>G | ENSP00000261590.8:p.Thr325Ala | |
| NM_001943.3:c.973A>G , LRG_397t1:c.973A>G | NP_001934.2:p.Thr325Ala | |
| NM_001943.4:c.973A>G | NP_001934.2:p.Thr325Ala | |
| XM_024451095.1:c.439A>G | XP_024306863.1:p.Thr147Ala | |
| NM_001943.5:c.973A>G MANE Select | NP_001934.2:p.Thr325Ala |