Linked Data
ClinVar Variation Id:
1904061
ClinVar RCV Id:
RCV002574168
dbSNP Id:
rs1412505801
gnomAD v3:
17-7224994-A-G
gnomAD v4:
17-7224994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224994A>G , CM000679.2:g.7224994A>G | GRCh38 |
| NC_000017.10:g.7128313A>G , CM000679.1:g.7128313A>G | GRCh37 |
| NC_000017.9:g.7069037A>G | NCBI36 |
| NG_007975.1:g.10161A>G | |
| NG_008391.2:g.57T>C | |
| NG_033038.1:g.14551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1865A>G MANE Select | ENSP00000349297.5:p.Gln622Arg | |
| ENST00000322910.9:c.*1820A>G | ENSP00000325395.5:n.*1820A>G | |
| ENST00000350303.9:c.1799A>G | ENSP00000344152.5:p.Gln600Arg | |
| ENST00000356839.9:c.1865A>G | ENSP00000349297.5:p.Gln622Arg | |
| ENST00000542255.6:c.744A>G | ||
| ENST00000543245.6:c.1934A>G | ENSP00000438689.2:p.Gln645Arg | |
| ENST00000578033.1:n.290A>G | ||
| ENST00000578319.5:n.446A>G | ||
| ENST00000578711.1:n.1490A>G | ||
| ENST00000578809.5:n.437A>G | ||
| ENST00000579425.5:n.981A>G | ||
| ENST00000583848.5:c.231A>G | ENSP00000466487.1:n.231A>G | |
| ENST00000583850.5:n.636A>G | ||
| ENST00000583858.5:c.796A>G | ||
| NM_000018.3:c.1865A>G | NP_000009.1:p.Gln622Arg | |
| NM_001033859.2:c.1799A>G | NP_001029031.1:p.Gln600Arg | |
| NM_001270447.1:c.1934A>G | NP_001257376.1:p.Gln645Arg | |
| NM_001270448.1:c.1637A>G | NP_001257377.1:p.Gln546Arg | |
| XM_006721516.2:c.1886A>G | XP_006721579.2:p.Gln629Arg | |
| XM_011523829.1:c.1784A>G | XP_011522131.1:p.Gln595Arg | |
| XM_011523830.1:c.1763A>G | XP_011522132.1:p.Gln588Arg | |
| XR_934021.1:n.1968A>G | ||
| XR_934022.1:n.1874A>G | ||
| XR_934023.1:n.1895A>G | ||
| XM_006721516.3:c.1886A>G | XP_006721579.2:p.Gln629Arg | |
| XM_011523829.2:c.1784A>G | XP_011522131.1:p.Gln595Arg | |
| XM_011523830.2:c.1763A>G | XP_011522132.1:p.Gln588Arg | |
| XM_024450741.1:c.1853A>G | XP_024306509.1:p.Gln618Arg | |
| XR_934021.2:n.1920A>G | ||
| XR_934022.2:n.1826A>G | ||
| XR_934023.2:n.1847A>G | ||
| NM_000018.4:c.1865A>G MANE Select | NP_000009.1:p.Gln622Arg | |
| NM_001033859.3:c.1799A>G | NP_001029031.1:p.Gln600Arg | |
| NM_001270447.2:c.1934A>G | NP_001257376.1:p.Gln645Arg | |
| NM_001270448.2:c.1637A>G | NP_001257377.1:p.Gln546Arg |