Linked Data
ClinVar Variation Id:
556027
dbSNP Id:
rs779258184
ExAC:
3:150659395 C / T
gnomAD v2:
3-150659395-C-T
gnomAD v3:
3-150941608-C-T
gnomAD v4:
3-150941608-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941608C>T , CM000665.2:g.150941608C>T | GRCh38 |
| NC_000003.11:g.150659395C>T , CM000665.1:g.150659395C>T | GRCh37 |
| NC_000003.10:g.152142085C>T | NCBI36 |
| NG_009168.1:g.36392G>A , LRG_700:g.36392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.407G>A MANE Select | ENSP00000322280.1:p.Gly136Glu | |
| ENST00000468836.2:c.555G>A | ENSP00000419892.2:n.555G>A | |
| ENST00000644099.1:c.399G>A | ENSP00000494762.1:n.399G>A | |
| ENST00000295911.6:c.179G>A | ENSP00000295911.2:p.Gly60Glu | |
| ENST00000327047.5:c.407G>A | ENSP00000322280.1:p.Gly136Glu | |
| ENST00000328863.8:c.407G>A | ENSP00000329158.4:p.Gly136Glu | |
| ENST00000468836.1:c.179G>A | ENSP00000419892.1:p.Gly60Glu | |
| ENST00000472224.1:n.413G>A | ||
| ENST00000485607.1:c.71G>A | ENSP00000419244.1:p.Gly24Glu | |
| ENST00000562308.5:c.78G>A | ||
| ENST00000565169.1:c.136G>A | ||
| ENST00000569170.5:c.136G>A | ||
| NM_001195794.1:c.407G>A , LRG_700t1:c.407G>A | NP_001182723.1:p.Gly136Glu | |
| NM_001256819.1:c.*21G>A | NP_001243748.1:n.*21G>A | |
| NM_052995.2:c.179G>A , LRG_700t2:c.179G>A | NP_443721.1:p.Gly60Glu | |
| NM_174878.2:c.407G>A | NP_777367.1:p.Gly136Glu | |
| NR_046380.2:n.849G>A | ||
| XR_924167.1:n.719G>A | ||
| NM_001256819.2:c.*21G>A | NP_001243748.1:n.*21G>A | |
| NM_174878.3:c.407G>A MANE Select | NP_777367.1:p.Gly136Glu | |
| NR_046380.3:n.577G>A |