Linked Data
ClinVar Variation Id:
932887
ClinVar RCV Id:
RCV001200853
dbSNP Id:
rs370146676
ExAC:
17:7124243 G / C
gnomAD v2:
17-7124243-G-C
gnomAD v3:
17-7220924-G-C
gnomAD v4:
17-7220924-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220924G>C , CM000679.2:g.7220924G>C | GRCh38 |
| NC_000017.10:g.7124243G>C , CM000679.1:g.7124243G>C | GRCh37 |
| NC_000017.9:g.7064967G>C | NCBI36 |
| NG_007975.1:g.6091G>C | |
| NG_008391.2:g.4127C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.343G>C MANE Select | ENSP00000349297.5:p.Glu115Gln | |
| ENST00000322910.9:c.*298G>C | ENSP00000325395.5:n.*298G>C | |
| ENST00000350303.9:c.277G>C | ENSP00000344152.5:p.Glu93Gln | |
| ENST00000356839.9:c.343G>C | ENSP00000349297.5:p.Glu115Gln | |
| ENST00000543245.6:c.412G>C | ENSP00000438689.2:p.Glu138Gln | |
| ENST00000577191.5:n.420G>C | ||
| ENST00000577433.5:n.551G>C | ||
| ENST00000577857.5:n.293+94G>C | ||
| ENST00000579286.5:n.524G>C | ||
| ENST00000579886.2:c.202-21G>C | ENSP00000463246.1:n.202-21G>C | |
| ENST00000580365.1:n.74G>C | ||
| ENST00000581378.5:c.42G>C | ||
| ENST00000581562.5:n.390G>C | ||
| ENST00000582056.5:n.526G>C | ||
| ENST00000582166.1:n.324G>C | ||
| ENST00000583312.5:c.343G>C | ENSP00000467920.1:p.Glu115Gln | |
| ENST00000584103.5:c.376G>C | ENSP00000465353.1:p.Glu126Gln | |
| NM_000018.3:c.343G>C | NP_000009.1:p.Glu115Gln | |
| NM_001033859.2:c.277G>C | NP_001029031.1:p.Glu93Gln | |
| NM_001270447.1:c.412G>C | NP_001257376.1:p.Glu138Gln | |
| NM_001270448.1:c.115G>C | NP_001257377.1:p.Glu39Gln | |
| XM_006721516.2:c.343G>C | XP_006721579.2:p.Glu115Gln | |
| XM_011523829.1:c.343G>C | XP_011522131.1:p.Glu115Gln | |
| XM_011523830.1:c.343G>C | XP_011522132.1:p.Glu115Gln | |
| XR_934021.1:n.450G>C | ||
| XR_934022.1:n.450G>C | ||
| XR_934023.1:n.450G>C | ||
| XM_006721516.3:c.343G>C | XP_006721579.2:p.Glu115Gln | |
| XM_011523829.2:c.343G>C | XP_011522131.1:p.Glu115Gln | |
| XM_011523830.2:c.343G>C | XP_011522132.1:p.Glu115Gln | |
| XM_024450741.1:c.343G>C | XP_024306509.1:p.Glu115Gln | |
| XR_934021.2:n.402G>C | ||
| XR_934022.2:n.402G>C | ||
| XR_934023.2:n.402G>C | ||
| NM_000018.4:c.343G>C MANE Select | NP_000009.1:p.Glu115Gln | |
| NM_001033859.3:c.277G>C | NP_001029031.1:p.Glu93Gln | |
| NM_001270447.2:c.412G>C | NP_001257376.1:p.Glu138Gln | |
| NM_001270448.2:c.115G>C | NP_001257377.1:p.Glu39Gln |