Linked Data
dbSNP Id:
rs749077002
ExAC:
17:6599217 C / G
gnomAD v2:
17-6599217-C-G
gnomAD v3:
17-6695898-C-G
gnomAD v4:
17-6695898-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6695898C>G , CM000679.2:g.6695898C>G | GRCh38 |
| NC_000017.10:g.6599217C>G , CM000679.1:g.6599217C>G | GRCh37 |
| NC_000017.9:g.6539941C>G | NCBI36 |
| NG_034220.1:g.22524G>C , LRG_1020:g.22524G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.883G>C MANE Select | ENSP00000406220.2:p.Glu295Gln | |
| ENST00000293800.10:c.832G>C | ENSP00000293800.6:p.Glu278Gln | |
| ENST00000381074.8:c.754G>C | ENSP00000370464.4:p.Glu252Gln | |
| ENST00000433363.6:c.883G>C | ENSP00000406220.2:p.Glu295Gln | |
| ENST00000572094.1:c.*633G>C | ENSP00000461495.1:n.*633G>C | |
| ENST00000573648.5:c.883G>C | ENSP00000459372.1:p.Glu295Gln | |
| ENST00000574824.5:n.2016G>C | ||
| NM_001143838.2:c.883G>C | NP_001137310.1:p.Glu295Gln | |
| NM_001284509.1:c.832G>C | NP_001271438.1:p.Glu278Gln | |
| NM_001284510.1:c.754G>C | NP_001271439.1:p.Glu252Gln | |
| NM_177550.4:c.883G>C , LRG_1020t1:c.883G>C | NP_808218.1:p.Glu295Gln | |
| XM_006721504.2:c.772G>C | XP_006721567.1:p.Glu258Gln | |
| XM_011523795.1:c.883G>C | XP_011522097.1:p.Glu295Gln | |
| XM_011523795.3:c.883G>C | XP_011522097.1:p.Glu295Gln | |
| NM_001143838.3:c.883G>C | NP_001137310.1:p.Glu295Gln | |
| NM_001284509.2:c.832G>C | NP_001271438.1:p.Glu278Gln | |
| NM_001284510.2:c.754G>C | NP_001271439.1:p.Glu252Gln | |
| NM_177550.5:c.883G>C MANE Select | NP_808218.1:p.Glu295Gln |