Linked Data
ClinVar Variation Id:
922243
dbSNP Id:
rs780267559
ExAC:
3:30648383 G / A
gnomAD v2:
3-30648383-G-A
gnomAD v4:
3-30606891-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606891G>A , CM000665.2:g.30606891G>A | GRCh38 |
| NC_000003.11:g.30648383G>A , CM000665.1:g.30648383G>A | GRCh37 |
| NC_000003.10:g.30623387G>A | NCBI36 |
| NG_007490.1:g.5390G>A , LRG_779:g.5390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.8G>A MANE Select | ENSP00000295754.5:p.Arg3Gln | |
| ENST00000295754.9:c.8G>A | ENSP00000295754.5:p.Arg3Gln | |
| ENST00000359013.4:c.8G>A | ENSP00000351905.4:p.Arg3Gln | |
| NM_001024847.2:c.8G>A , LRG_779t1:c.8G>A | NP_001020018.1:p.Arg3Gln | |
| NM_003242.5:c.8G>A | NP_003233.4:p.Arg3Gln | |
| XM_011534045.1:c.-12+298G>A | XP_011532347.1:n.-12+298G>A | |
| XM_011534045.3:c.-12+298G>A | XP_011532347.1:n.-12+298G>A | |
| NM_003242.6:c.8G>A MANE Select | NP_003233.4:p.Arg3Gln |