Linked Data
ClinVar Variation Id:
543204
dbSNP Id:
rs749610931
ExAC:
1:10407845 C / G
gnomAD v2:
1-10407845-C-G
gnomAD v3:
1-10347787-C-G
gnomAD v4:
1-10347787-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10347787C>G , CM000663.2:g.10347787C>G | GRCh38 |
| NC_000001.10:g.10407845C>G , CM000663.1:g.10407845C>G | GRCh37 |
| NC_000001.9:g.10330432C>G | NCBI36 |
| NG_008069.1:g.142082C>G , LRG_252:g.142082C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3887C>G | ENSP00000512668.1:p.Thr1296Arg | |
| ENST00000696503.1:c.3749C>G | ENSP00000512669.1:p.Thr1250Arg | |
| ENST00000696504.1:c.3749C>G | ENSP00000512670.1:p.Thr1250Arg | |
| ENST00000676179.1:c.3824C>G MANE Select | ENSP00000502065.1:p.Thr1275Arg | |
| ENST00000263934.10:c.3686C>G | ENSP00000263934.6:p.Thr1229Arg | |
| ENST00000377081.5:c.3824C>G | ENSP00000366284.1:p.Thr1275Arg | |
| ENST00000377086.5:c.3824C>G | ENSP00000366290.1:p.Thr1275Arg | |
| ENST00000465635.5:n.279C>G | ||
| ENST00000483340.1:n.360C>G | ||
| ENST00000620295.2:c.3782C>G | ENSP00000478500.1:p.Thr1261Arg | |
| ENST00000622724.3:c.3746C>G | ENSP00000480063.1:p.Thr1249Arg | |
| NM_015074.3:c.3686C>G , LRG_252t1:c.3686C>G | NP_055889.2:p.Thr1229Arg | |
| NM_001365951.1:c.3824C>G | NP_001352880.1:p.Thr1275Arg | |
| NM_001365952.1:c.3824C>G | NP_001352881.1:p.Thr1275Arg | |
| NM_001365951.3:c.3824C>G MANE Select | NP_001352880.1:p.Thr1275Arg |