Linked Data
ClinVar Variation Id:
1453582
dbSNP Id:
rs202216257
ExAC:
17:7125596 G / C
gnomAD v2:
17-7125596-G-C
gnomAD v3:
17-7222277-G-C
gnomAD v4:
17-7222277-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222277G>C , CM000679.2:g.7222277G>C | GRCh38 |
| NC_000017.10:g.7125596G>C , CM000679.1:g.7125596G>C | GRCh37 |
| NC_000017.9:g.7066320G>C | NCBI36 |
| NG_007975.1:g.7444G>C | |
| NG_008391.2:g.2774C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.853G>C MANE Select | ENSP00000349297.5:p.Glu285Gln | |
| ENST00000322910.9:c.*808G>C | ENSP00000325395.5:n.*808G>C | |
| ENST00000350303.9:c.787G>C | ENSP00000344152.5:p.Glu263Gln | |
| ENST00000356839.9:c.853G>C | ENSP00000349297.5:p.Glu285Gln | |
| ENST00000543245.6:c.922G>C | ENSP00000438689.2:p.Glu308Gln | |
| ENST00000577191.5:n.1025G>C | ||
| ENST00000581378.5:c.571G>C | ||
| ENST00000582379.1:n.237G>C | ||
| NM_000018.3:c.853G>C | NP_000009.1:p.Glu285Gln | |
| NM_001033859.2:c.787G>C | NP_001029031.1:p.Glu263Gln | |
| NM_001270447.1:c.922G>C | NP_001257376.1:p.Glu308Gln | |
| NM_001270448.1:c.625G>C | NP_001257377.1:p.Glu209Gln | |
| XM_006721516.2:c.853G>C | XP_006721579.2:p.Glu285Gln | |
| XM_011523829.1:c.853G>C | XP_011522131.1:p.Glu285Gln | |
| XM_011523830.1:c.853G>C | XP_011522132.1:p.Glu285Gln | |
| XR_934021.1:n.960G>C | ||
| XR_934022.1:n.960G>C | ||
| XR_934023.1:n.960G>C | ||
| XM_006721516.3:c.853G>C | XP_006721579.2:p.Glu285Gln | |
| XM_011523829.2:c.853G>C | XP_011522131.1:p.Glu285Gln | |
| XM_011523830.2:c.853G>C | XP_011522132.1:p.Glu285Gln | |
| XM_024450741.1:c.853G>C | XP_024306509.1:p.Glu285Gln | |
| XR_934021.2:n.912G>C | ||
| XR_934022.2:n.912G>C | ||
| XR_934023.2:n.912G>C | ||
| NM_000018.4:c.853G>C MANE Select | NP_000009.1:p.Glu285Gln | |
| NM_001033859.3:c.787G>C | NP_001029031.1:p.Glu263Gln | |
| NM_001270447.2:c.922G>C | NP_001257376.1:p.Glu308Gln | |
| NM_001270448.2:c.625G>C | NP_001257377.1:p.Glu209Gln |