Linked Data
ClinVar Variation Id:
201888
dbSNP Id:
rs794729074
gnomAD v3:
10-68195484-A-G
gnomAD v4:
10-68195484-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195484A>G , CM000672.2:g.68195484A>G | GRCh38 |
| NC_000010.10:g.69955241A>G , CM000672.1:g.69955241A>G | GRCh37 |
| NC_000010.9:g.69625247A>G | NCBI36 |
| NG_032118.1:g.94368A>G , LRG_410:g.94368A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2285A>G | ENSP00000346369.2:p.Gln762Arg | |
| ENST00000540630.6:c.3164A>G | ENSP00000441668.3:p.Gln1055Arg | |
| ENST00000613327.5:c.3110A>G | ENSP00000480757.2:p.Gln1037Arg | |
| ENST00000688812.1:c.*373A>G | ENSP00000510658.1:n.*373A>G | |
| ENST00000690544.1:c.*2381A>G | ENSP00000508989.1:n.*2381A>G | |
| ENST00000358913.10:c.3110A>G MANE Select | ENSP00000351790.5:p.Gln1037Arg | |
| ENST00000354393.6:c.2285A>G | ENSP00000346369.2:p.Gln762Arg | |
| ENST00000358913.9:c.3110A>G | ENSP00000351790.5:p.Gln1037Arg | |
| ENST00000540630.5:c.3110A>G | ENSP00000441668.2:p.Gln1037Arg | |
| ENST00000613327.4:c.2228A>G | ENSP00000480757.1:p.Gln743Arg | |
| NM_001256267.1:c.3110A>G | NP_001243196.1:p.Gln1037Arg | |
| NM_001256268.1:c.2228A>G | NP_001243197.1:p.Gln743Arg | |
| NM_032578.3:c.3110A>G , LRG_410t1:c.3110A>G | NP_115967.2:p.Gln1037Arg | |
| NR_045662.3:n.2537A>G | ||
| NR_045663.3:n.3239A>G | ||
| XM_006718043.2:c.3164A>G | XP_006718106.1:p.Gln1055Arg | |
| XM_011540292.1:c.3140A>G | XP_011538594.1:p.Gln1047Arg | |
| XM_017016833.1:c.3188A>G | XP_016872322.1:p.Gln1063Arg | |
| XM_017016834.2:c.3110A>G | XP_016872323.1:p.Gln1037Arg | |
| XM_024448236.1:c.1988A>G | XP_024304004.1:p.Gln663Arg | |
| NR_045662.4:n.2647A>G | ||
| NR_045663.4:n.3184A>G | ||
| NM_001256267.2:c.3110A>G | NP_001243196.1:p.Gln1037Arg | |
| NM_001256268.2:c.2228A>G | NP_001243197.1:p.Gln743Arg | |
| NM_032578.4:c.3110A>G MANE Select | NP_115967.2:p.Gln1037Arg |