Linked Data
ClinVar Variation Id:
2157665
ClinVar RCV Id:
RCV003078212
dbSNP Id:
rs780752425
ExAC:
17:37822183 A / G
gnomAD v2:
17-37822183-A-G
gnomAD v4:
17-39665930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665930A>G , CM000679.2:g.39665930A>G | GRCh38 |
| NC_000017.10:g.37822183A>G , CM000679.1:g.37822183A>G | GRCh37 |
| NC_000017.9:g.35075709A>G | NCBI36 |
| NG_008892.1:g.5585A>G , LRG_210:g.5585A>G | |
| NG_042278.1:g.2950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.325A>G MANE Select | ENSP00000312624.2:p.Thr109Ala | |
| ENST00000309889.2:c.325A>G | ENSP00000312624.2:p.Thr109Ala | |
| ENST00000578283.1:c.253A>G | ENSP00000462787.1:p.Thr85Ala | |
| NM_003673.3:c.325A>G , LRG_210t1:c.325A>G | NP_003664.1:p.Thr109Ala | |
| NM_003673.4:c.325A>G MANE Select | NP_003664.1:p.Thr109Ala |