Linked Data
ClinVar Variation Id:
1484255
ClinVar RCV Id:
RCV002005661
dbSNP Id:
rs779650201
ExAC:
17:7124375 C / G
gnomAD v2:
17-7124375-C-G
gnomAD v4:
17-7221056-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221056C>G , CM000679.2:g.7221056C>G | GRCh38 |
| NC_000017.10:g.7124375C>G , CM000679.1:g.7124375C>G | GRCh37 |
| NC_000017.9:g.7065099C>G | NCBI36 |
| NG_007975.1:g.6223C>G | |
| NG_008391.2:g.3995G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.475C>G MANE Select | ENSP00000349297.5:p.Gln159Glu | |
| ENST00000322910.9:c.*430C>G | ENSP00000325395.5:n.*430C>G | |
| ENST00000350303.9:c.409C>G | ENSP00000344152.5:p.Gln137Glu | |
| ENST00000356839.9:c.475C>G | ENSP00000349297.5:p.Gln159Glu | |
| ENST00000543245.6:c.544C>G | ENSP00000438689.2:p.Gln182Glu | |
| ENST00000577191.5:n.552C>G | ||
| ENST00000577433.5:n.683C>G | ||
| ENST00000577857.5:n.293+226C>G | ||
| ENST00000579286.5:n.656C>G | ||
| ENST00000579886.2:c.313C>G | ENSP00000463246.1:p.Gln105Glu | |
| ENST00000580365.1:n.206C>G | ||
| ENST00000581378.5:c.174C>G | ||
| ENST00000581562.5:n.522C>G | ||
| ENST00000582056.5:n.658C>G | ||
| ENST00000582166.1:n.456C>G | ||
| ENST00000583312.5:c.475C>G | ENSP00000467920.1:p.Gln159Glu | |
| NM_000018.3:c.475C>G | NP_000009.1:p.Gln159Glu | |
| NM_001033859.2:c.409C>G | NP_001029031.1:p.Gln137Glu | |
| NM_001270447.1:c.544C>G | NP_001257376.1:p.Gln182Glu | |
| NM_001270448.1:c.247C>G | NP_001257377.1:p.Gln83Glu | |
| XM_006721516.2:c.475C>G | XP_006721579.2:p.Gln159Glu | |
| XM_011523829.1:c.475C>G | XP_011522131.1:p.Gln159Glu | |
| XM_011523830.1:c.475C>G | XP_011522132.1:p.Gln159Glu | |
| XR_934021.1:n.582C>G | ||
| XR_934022.1:n.582C>G | ||
| XR_934023.1:n.582C>G | ||
| XM_006721516.3:c.475C>G | XP_006721579.2:p.Gln159Glu | |
| XM_011523829.2:c.475C>G | XP_011522131.1:p.Gln159Glu | |
| XM_011523830.2:c.475C>G | XP_011522132.1:p.Gln159Glu | |
| XM_024450741.1:c.475C>G | XP_024306509.1:p.Gln159Glu | |
| XR_934021.2:n.534C>G | ||
| XR_934022.2:n.534C>G | ||
| XR_934023.2:n.534C>G | ||
| NM_000018.4:c.475C>G MANE Select | NP_000009.1:p.Gln159Glu | |
| NM_001033859.3:c.409C>G | NP_001029031.1:p.Gln137Glu | |
| NM_001270447.2:c.544C>G | NP_001257376.1:p.Gln182Glu | |
| NM_001270448.2:c.247C>G | NP_001257377.1:p.Gln83Glu |