Linked Data
ClinVar Variation Id:
2712046
ClinVar RCV Id:
RCV003586834
dbSNP Id:
rs765207816
ExAC:
19:55665406 T / C
gnomAD v2:
19-55665406-T-C
gnomAD v4:
19-55154038-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154038T>C , CM000681.2:g.55154038T>C | GRCh38 |
| NC_000019.9:g.55665406T>C , CM000681.1:g.55665406T>C | GRCh37 |
| NC_000019.8:g.60357218T>C | NCBI36 |
| NG_007866.2:g.8695A>G , LRG_432:g.8695A>G | |
| NG_011829.2:g.201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.541A>G MANE Select | ENSP00000341838.5:p.Thr181Ala | |
| ENST00000665070.1:c.574A>G | ENSP00000499482.1:p.Thr192Ala | |
| ENST00000344887.9:c.541A>G | ENSP00000341838.5:p.Thr181Ala | |
| ENST00000585806.5:n.540A>G | ||
| ENST00000588882.1:c.466A>G | ENSP00000466729.1:p.Thr156Ala | |
| ENST00000589864.1:n.369A>G | ||
| NM_000363.4:c.541A>G , LRG_432t1:c.541A>G | NP_000354.4:p.Thr181Ala | |
| NM_000363.5:c.541A>G MANE Select | NP_000354.4:p.Thr181Ala |