Linked Data
ClinVar Variation Id:
31691
dbSNP Id:
rs387907196
ExAC:
9:37784950 C / G
gnomAD v2:
9-37784950-C-G
gnomAD v4:
9-37784953-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37784953C>G , CM000671.2:g.37784953C>G | GRCh38 |
| NC_000009.11:g.37784950C>G , CM000671.1:g.37784950C>G | GRCh37 |
| NC_000009.10:g.37774950C>G | NCBI36 |
| NG_032780.1:g.5140G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.92G>C MANE Select | ENSP00000323046.4:p.Gly31Ala | |
| ENST00000678095.1:c.-70-890G>C | ENSP00000503205.1:n.-70-890G>C | |
| ENST00000678588.1:n.112G>C | ||
| ENST00000679059.1:c.92G>C | ENSP00000503947.1:p.Gly31Ala | |
| ENST00000327304.9:c.92G>C | ENSP00000323046.4:p.Gly31Ala | |
| ENST00000396521.3:c.92G>C | ENSP00000379775.3:p.Gly31Ala | |
| ENST00000465229.5:c.92G>C | ENSP00000418422.1:p.Gly31Ala | |
| ENST00000482614.5:n.86-890G>C | ||
| ENST00000489414.5:n.44-890G>C | ||
| ENST00000540557.1:c.*761-890G>C | ENSP00000457548.1:n.*761-890G>C | |
| NM_001002269.2:c.92G>C | NP_001002269.1:p.Gly31Ala | |
| NM_016042.3:c.92G>C | NP_057126.2:p.Gly31Ala | |
| NM_016042.4:c.92G>C MANE Select | NP_057126.2:p.Gly31Ala |