Linked Data
dbSNP Id:
rs779309267
ExAC:
10:73558306 G / C
gnomAD v2:
10-73558306-G-C
gnomAD v3:
10-71798549-G-C
gnomAD v4:
10-71798549-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798549G>C , CM000672.2:g.71798549G>C | GRCh38 |
| NC_000010.10:g.73558306G>C , CM000672.1:g.73558306G>C | GRCh37 |
| NC_000010.9:g.73228312G>C | NCBI36 |
| NG_008835.1:g.406603G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7025G>C MANE Select | ENSP00000224721.9:p.Gly2342Ala | |
| ENST00000642965.1:c.958G>C | ENSP00000495222.1:n.958G>C | |
| ENST00000647092.1:c.622G>C | ENSP00000495176.1:n.622G>C | |
| ENST00000224721.10:c.7040G>C | ENSP00000224721.8:p.Gly2347Ala | |
| ENST00000398788.4:c.305G>C | ENSP00000381768.3:p.Gly102Ala | |
| ENST00000475158.1:n.561G>C | ||
| ENST00000619887.4:c.305G>C | ENSP00000478374.1:p.Gly102Ala | |
| ENST00000622827.4:c.7025G>C | ENSP00000483211.1:p.Gly2342Ala | |
| NM_001171933.1:c.305G>C | NP_001165404.1:p.Gly102Ala | |
| NM_001171934.1:c.305G>C | NP_001165405.1:p.Gly102Ala | |
| NM_022124.5:c.7025G>C | NP_071407.4:p.Gly2342Ala | |
| XM_006717940.2:c.7220G>C | XP_006718003.1:p.Gly2407Ala | |
| XM_006717942.2:c.7154G>C | XP_006718005.1:p.Gly2385Ala | |
| XM_011540039.1:c.7217G>C | XP_011538341.1:p.Gly2406Ala | |
| XM_011540040.1:c.7214G>C | XP_011538342.1:p.Gly2405Ala | |
| XM_011540041.1:c.7160G>C | XP_011538343.1:p.Gly2387Ala | |
| XM_011540042.1:c.7130G>C | XP_011538344.1:p.Gly2377Ala | |
| XM_011540043.1:c.7220G>C | XP_011538345.1:p.Gly2407Ala | |
| XM_011540044.1:c.7085G>C | XP_011538346.1:p.Gly2362Ala | |
| XM_011540045.1:c.7220G>C | XP_011538347.1:p.Gly2407Ala | |
| XM_011540046.1:c.6680G>C | XP_011538348.1:p.Gly2227Ala | |
| XM_011540047.1:c.6038G>C | XP_011538349.1:p.Gly2013Ala | |
| XM_011540052.1:c.3548G>C | XP_011538354.1:p.Gly1183Ala | |
| NM_022124.6:c.7025G>C MANE Select | NP_071407.4:p.Gly2342Ala |