Linked Data
ClinVar Variation Id:
1179411
ClinVar RCV Id:
RCV001536389
dbSNP Id:
rs756638508
ExAC:
17:6610349 G / T
gnomAD v2:
17-6610349-G-T
gnomAD v3:
17-6707030-G-T
gnomAD v4:
17-6707030-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6707030G>T , CM000679.2:g.6707030G>T | GRCh38 |
| NC_000017.10:g.6610349G>T , CM000679.1:g.6610349G>T | GRCh37 |
| NC_000017.9:g.6551073G>T | NCBI36 |
| NG_034220.1:g.11392C>A , LRG_1020:g.11392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.229C>A MANE Select | ENSP00000406220.2:p.Gln77Lys | |
| ENST00000293800.10:c.229C>A | ENSP00000293800.6:p.Gln77Lys | |
| ENST00000381074.8:c.103-252C>A | ENSP00000370464.4:n.103-252C>A | |
| ENST00000433363.6:c.229C>A | ENSP00000406220.2:p.Gln77Lys | |
| ENST00000572094.1:c.227+2C>A | ENSP00000461495.1:n.227+2C>A | |
| ENST00000572352.5:c.118C>A | ENSP00000461622.1:p.Gln40Lys | |
| ENST00000573648.5:c.229C>A | ENSP00000459372.1:p.Gln77Lys | |
| ENST00000575230.1:c.229C>A | ENSP00000460903.1:p.Gln77Lys | |
| ENST00000576323.1:n.259C>A | ||
| NM_001143838.2:c.229C>A | NP_001137310.1:p.Gln77Lys | |
| NM_001284509.1:c.229C>A | NP_001271438.1:p.Gln77Lys | |
| NM_001284510.1:c.103-252C>A | NP_001271439.1:n.103-252C>A | |
| NM_177550.4:c.229C>A , LRG_1020t1:c.229C>A | NP_808218.1:p.Gln77Lys | |
| XM_006721504.2:c.118C>A | XP_006721567.1:p.Gln40Lys | |
| XM_011523795.1:c.229C>A | XP_011522097.1:p.Gln77Lys | |
| XM_011523795.3:c.229C>A | XP_011522097.1:p.Gln77Lys | |
| NM_001143838.3:c.229C>A | NP_001137310.1:p.Gln77Lys | |
| NM_001284509.2:c.229C>A | NP_001271438.1:p.Gln77Lys | |
| NM_001284510.2:c.103-252C>A | NP_001271439.1:n.103-252C>A | |
| NM_177550.5:c.229C>A MANE Select | NP_808218.1:p.Gln77Lys |