Linked Data
ClinVar Variation Id:
46043
dbSNP Id:
rs201733315
ExAC:
10:73565712 G / A
gnomAD v2:
10-73565712-G-A
gnomAD v3:
10-71805955-G-A
gnomAD v4:
10-71805955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71805955G>A , CM000672.2:g.71805955G>A | GRCh38 |
| NC_000010.10:g.73565712G>A , CM000672.1:g.73565712G>A | GRCh37 |
| NC_000010.9:g.73235718G>A | NCBI36 |
| NG_008835.1:g.414009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8022G>A MANE Select | ENSP00000224721.9:p.Gln2674= | |
| ENST00000642965.1:c.1955G>A | ENSP00000495222.1:n.1955G>A | |
| ENST00000647092.1:c.1619G>A | ENSP00000495176.1:n.1619G>A | |
| ENST00000224721.10:c.8037G>A | ENSP00000224721.8:p.Gln2679= | |
| ENST00000398788.4:c.1302G>A | ENSP00000381768.3:p.Gln434= | |
| ENST00000475158.1:n.1558G>A | ||
| ENST00000619887.4:c.1302G>A | ENSP00000478374.1:p.Gln434= | |
| ENST00000622827.4:c.8022G>A | ENSP00000483211.1:p.Gln2674= | |
| NM_001171933.1:c.1302G>A | NP_001165404.1:p.Gln434= | |
| NM_001171934.1:c.1302G>A | NP_001165405.1:p.Gln434= | |
| NM_022124.5:c.8022G>A | NP_071407.4:p.Gln2674= | |
| XM_006717940.2:c.8217G>A | XP_006718003.1:p.Gln2739= | |
| XM_006717942.2:c.8151G>A | XP_006718005.1:p.Gln2717= | |
| XM_011540039.1:c.8214G>A | XP_011538341.1:p.Gln2738= | |
| XM_011540040.1:c.8211G>A | XP_011538342.1:p.Gln2737= | |
| XM_011540041.1:c.8157G>A | XP_011538343.1:p.Gln2719= | |
| XM_011540042.1:c.8127G>A | XP_011538344.1:p.Gln2709= | |
| XM_011540043.1:c.8217G>A | XP_011538345.1:p.Gln2739= | |
| XM_011540044.1:c.8082G>A | XP_011538346.1:p.Gln2694= | |
| XM_011540045.1:c.8217G>A | XP_011538347.1:p.Gln2739= | |
| XM_011540046.1:c.7677G>A | XP_011538348.1:p.Gln2559= | |
| XM_011540047.1:c.7035G>A | XP_011538349.1:p.Gln2345= | |
| XM_011540052.1:c.4545G>A | XP_011538354.1:p.Gln1515= | |
| NM_022124.6:c.8022G>A MANE Select | NP_071407.4:p.Gln2674= |