Linked Data
dbSNP Id:
rs369180417
ExAC:
10:69571343 C / T
gnomAD v2:
10-69571343-C-T
gnomAD v3:
10-67811585-C-T
gnomAD v4:
10-67811585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811585C>T , CM000672.2:g.67811585C>T | GRCh38 |
| NC_000010.10:g.69571343C>T , CM000672.1:g.69571343C>T | GRCh37 |
| NC_000010.9:g.69241349C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.236G>A MANE Select | ENSP00000225171.2:p.Arg79Gln | |
| ENST00000225171.6:c.236G>A | ENSP00000225171.2:p.Arg79Gln | |
| ENST00000339758.7:c.236G>A | ENSP00000343575.6:p.Arg79Gln | |
| ENST00000480180.1:c.*255G>A | ENSP00000474804.1:n.*255G>A | |
| ENST00000480963.5:c.*156G>A | ENSP00000473979.1:n.*156G>A | |
| ENST00000483798.6:c.326G>A | ENSP00000474215.1:p.Arg109Gln | |
| NM_021800.2:c.236G>A | NP_068572.1:p.Arg79Gln | |
| NM_201262.1:c.236G>A | NP_957714.1:p.Arg79Gln | |
| XM_011539967.1:c.266G>A | XP_011538269.1:p.Arg89Gln | |
| XM_017016431.1:c.-11G>A | XP_016871920.1:n.-11G>A | |
| XM_017016432.2:c.-11G>A | XP_016871921.1:n.-11G>A | |
| NM_021800.3:c.236G>A MANE Select | NP_068572.1:p.Arg79Gln | |
| NM_201262.2:c.236G>A | NP_957714.1:p.Arg79Gln |