Linked Data
ClinVar Variation Id:
522663
dbSNP Id:
rs547034667
ExAC:
10:73567342 G / A
gnomAD v2:
10-73567342-G-A
gnomAD v3:
10-71807585-G-A
gnomAD v4:
10-71807585-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71807585G>A , CM000672.2:g.71807585G>A | GRCh38 |
| NC_000010.10:g.73567342G>A , CM000672.1:g.73567342G>A | GRCh37 |
| NC_000010.9:g.73237348G>A | NCBI36 |
| NG_008835.1:g.415639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8378G>A MANE Select | ENSP00000224721.9:p.Arg2793Gln | |
| ENST00000642965.1:c.2311G>A | ENSP00000495222.1:n.2311G>A | |
| ENST00000647092.1:c.1975G>A | ENSP00000495176.1:n.1975G>A | |
| ENST00000224721.10:c.8393G>A | ENSP00000224721.8:p.Arg2798Gln | |
| ENST00000398788.4:c.1658G>A | ENSP00000381768.3:p.Arg553Gln | |
| ENST00000475158.1:n.1914G>A | ||
| ENST00000619887.4:c.1658G>A | ENSP00000478374.1:p.Arg553Gln | |
| ENST00000622827.4:c.8378G>A | ENSP00000483211.1:p.Arg2793Gln | |
| NM_001171933.1:c.1658G>A | NP_001165404.1:p.Arg553Gln | |
| NM_001171934.1:c.1658G>A | NP_001165405.1:p.Arg553Gln | |
| NM_022124.5:c.8378G>A | NP_071407.4:p.Arg2793Gln | |
| XM_006717940.2:c.8573G>A | XP_006718003.1:p.Arg2858Gln | |
| XM_006717942.2:c.8507G>A | XP_006718005.1:p.Arg2836Gln | |
| XM_011540039.1:c.8570G>A | XP_011538341.1:p.Arg2857Gln | |
| XM_011540040.1:c.8567G>A | XP_011538342.1:p.Arg2856Gln | |
| XM_011540041.1:c.8513G>A | XP_011538343.1:p.Arg2838Gln | |
| XM_011540042.1:c.8483G>A | XP_011538344.1:p.Arg2828Gln | |
| XM_011540043.1:c.8573G>A | XP_011538345.1:p.Arg2858Gln | |
| XM_011540044.1:c.8438G>A | XP_011538346.1:p.Arg2813Gln | |
| XM_011540045.1:c.8573G>A | XP_011538347.1:p.Arg2858Gln | |
| XM_011540046.1:c.8033G>A | XP_011538348.1:p.Arg2678Gln | |
| XM_011540047.1:c.7391G>A | XP_011538349.1:p.Arg2464Gln | |
| XM_011540052.1:c.4901G>A | XP_011538354.1:p.Arg1634Gln | |
| NM_022124.6:c.8378G>A MANE Select | NP_071407.4:p.Arg2793Gln |