Linked Data
ClinVar Variation Id:
1115114
ClinVar RCV Id:
RCV001443032
dbSNP Id:
rs774384466
ExAC:
3:30715635 A / G
gnomAD v2:
3-30715635-A-G
gnomAD v3:
3-30674143-A-G
gnomAD v4:
3-30674143-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674143A>G , CM000665.2:g.30674143A>G | GRCh38 |
| NC_000003.11:g.30715635A>G , CM000665.1:g.30715635A>G | GRCh37 |
| NC_000003.10:g.30690639A>G | NCBI36 |
| NG_007490.1:g.72642A>G , LRG_779:g.72642A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1293A>G MANE Select | ENSP00000295754.5:p.Glu431= | |
| ENST00000672866.1:n.2889A>G | ||
| ENST00000673203.1:n.171A>G | ||
| ENST00000295754.9:c.1293A>G | ENSP00000295754.5:p.Glu431= | |
| ENST00000359013.4:c.1368A>G | ENSP00000351905.4:p.Glu456= | |
| NM_001024847.2:c.1368A>G , LRG_779t1:c.1368A>G | NP_001020018.1:p.Glu456= | |
| NM_003242.5:c.1293A>G | NP_003233.4:p.Glu431= | |
| XM_011534043.1:c.1320A>G | XP_011532345.1:p.Glu440= | |
| XM_011534044.1:c.1245A>G | XP_011532346.1:p.Glu415= | |
| XM_011534045.1:c.1188A>G | XP_011532347.1:p.Glu396= | |
| XM_011534043.2:c.1320A>G | XP_011532345.1:p.Glu440= | |
| XM_011534045.3:c.1188A>G | XP_011532347.1:p.Glu396= | |
| XM_017007106.1:c.1188A>G | XP_016862595.1:p.Glu396= | |
| NM_003242.6:c.1293A>G MANE Select | NP_003233.4:p.Glu431= |