Linked Data
ClinVar Variation Id:
162956
dbSNP Id:
rs727502936
ExAC:
10:73572580 G / A
gnomAD v2:
10-73572580-G-A
gnomAD v3:
10-71812823-G-A
gnomAD v4:
10-71812823-G-A
ERepo:
CA175533/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71812823G>A , CM000672.2:g.71812823G>A | GRCh38 |
| NC_000010.10:g.73572580G>A , CM000672.1:g.73572580G>A | GRCh37 |
| NC_000010.9:g.73242586G>A | NCBI36 |
| NG_008835.1:g.420877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9566G>A MANE Select | ENSP00000224721.9:p.Arg3189Gln | |
| ENST00000642965.1:c.3499G>A | ENSP00000495222.1:n.3499G>A | |
| ENST00000647092.1:c.3163G>A | ENSP00000495176.1:n.3163G>A | |
| ENST00000224721.10:c.9581G>A | ENSP00000224721.8:p.Arg3194Gln | |
| ENST00000398788.4:c.2846G>A | ENSP00000381768.3:p.Arg949Gln | |
| ENST00000475158.1:n.3102G>A | ||
| ENST00000619887.4:c.2846G>A | ENSP00000478374.1:p.Arg949Gln | |
| ENST00000622827.4:c.9566G>A | ENSP00000483211.1:p.Arg3189Gln | |
| NM_001171933.1:c.2846G>A | NP_001165404.1:p.Arg949Gln | |
| NM_001171934.1:c.2846G>A | NP_001165405.1:p.Arg949Gln | |
| NM_001171935.1:c.257G>A | NP_001165406.1:p.Arg86Gln | |
| NM_001171936.1:c.257G>A | NP_001165407.1:p.Arg86Gln | |
| NM_022124.5:c.9566G>A | NP_071407.4:p.Arg3189Gln | |
| XM_006717940.2:c.9761G>A | XP_006718003.1:p.Arg3254Gln | |
| XM_006717942.2:c.9695G>A | XP_006718005.1:p.Arg3232Gln | |
| XM_011540039.1:c.9758G>A | XP_011538341.1:p.Arg3253Gln | |
| XM_011540040.1:c.9755G>A | XP_011538342.1:p.Arg3252Gln | |
| XM_011540041.1:c.9701G>A | XP_011538343.1:p.Arg3234Gln | |
| XM_011540042.1:c.9671G>A | XP_011538344.1:p.Arg3224Gln | |
| XM_011540043.1:c.9761G>A | XP_011538345.1:p.Arg3254Gln | |
| XM_011540044.1:c.9626G>A | XP_011538346.1:p.Arg3209Gln | |
| XM_011540045.1:c.9761G>A | XP_011538347.1:p.Arg3254Gln | |
| XM_011540046.1:c.9221G>A | XP_011538348.1:p.Arg3074Gln | |
| XM_011540047.1:c.8579G>A | XP_011538349.1:p.Arg2860Gln | |
| XM_011540052.1:c.6089G>A | XP_011538354.1:p.Arg2030Gln | |
| NM_022124.6:c.9566G>A MANE Select | NP_071407.4:p.Arg3189Gln |