Linked Data
ClinVar Variation Id:
660383
ClinVar RCV Id:
RCV000817564
dbSNP Id:
rs1412352155
gnomAD v2:
17-6607232-T-C
gnomAD v4:
17-6703913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703913T>C , CM000679.2:g.6703913T>C | GRCh38 |
| NC_000017.10:g.6607232T>C , CM000679.1:g.6607232T>C | GRCh37 |
| NC_000017.9:g.6547956T>C | NCBI36 |
| NG_034220.1:g.14509A>G , LRG_1020:g.14509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.512A>G MANE Select | ENSP00000406220.2:p.Glu171Gly | |
| ENST00000293800.10:c.461A>G | ENSP00000293800.6:p.Glu154Gly | |
| ENST00000381074.8:c.383A>G | ENSP00000370464.4:p.Glu128Gly | |
| ENST00000433363.6:c.512A>G | ENSP00000406220.2:p.Glu171Gly | |
| ENST00000572094.1:c.*262A>G | ENSP00000461495.1:n.*262A>G | |
| ENST00000572352.5:c.401A>G | ENSP00000461622.1:p.Glu134Gly | |
| ENST00000573648.5:c.512A>G | ENSP00000459372.1:p.Glu171Gly | |
| ENST00000574824.5:n.1645A>G | ||
| ENST00000576323.1:n.542A>G | ||
| NM_001143838.2:c.512A>G | NP_001137310.1:p.Glu171Gly | |
| NM_001284509.1:c.461A>G | NP_001271438.1:p.Glu154Gly | |
| NM_001284510.1:c.383A>G | NP_001271439.1:p.Glu128Gly | |
| NM_177550.4:c.512A>G , LRG_1020t1:c.512A>G | NP_808218.1:p.Glu171Gly | |
| XM_006721504.2:c.401A>G | XP_006721567.1:p.Glu134Gly | |
| XM_011523795.1:c.512A>G | XP_011522097.1:p.Glu171Gly | |
| XM_011523795.3:c.512A>G | XP_011522097.1:p.Glu171Gly | |
| NM_001143838.3:c.512A>G | NP_001137310.1:p.Glu171Gly | |
| NM_001284509.2:c.461A>G | NP_001271438.1:p.Glu154Gly | |
| NM_001284510.2:c.383A>G | NP_001271439.1:p.Glu128Gly | |
| NM_177550.5:c.512A>G MANE Select | NP_808218.1:p.Glu171Gly |