Linked Data
dbSNP Id:
rs775170395
gnomAD v2:
10-69571369-C-G
gnomAD v3:
10-67811611-C-G
gnomAD v4:
10-67811611-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811611C>G , CM000672.2:g.67811611C>G | GRCh38 |
| NC_000010.10:g.69571369C>G , CM000672.1:g.69571369C>G | GRCh37 |
| NC_000010.9:g.69241375C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.210G>C MANE Select | ENSP00000225171.2:p.Glu70Asp | |
| ENST00000225171.6:c.210G>C | ENSP00000225171.2:p.Glu70Asp | |
| ENST00000339758.7:c.210G>C | ENSP00000343575.6:p.Glu70Asp | |
| ENST00000480180.1:c.*229G>C | ENSP00000474804.1:n.*229G>C | |
| ENST00000480963.5:c.*130G>C | ENSP00000473979.1:n.*130G>C | |
| ENST00000483798.6:c.300G>C | ENSP00000474215.1:p.Glu100Asp | |
| NM_021800.2:c.210G>C | NP_068572.1:p.Glu70Asp | |
| NM_201262.1:c.210G>C | NP_957714.1:p.Glu70Asp | |
| XM_011539967.1:c.240G>C | XP_011538269.1:p.Glu80Asp | |
| XM_017016431.1:c.-37G>C | XP_016871920.1:n.-37G>C | |
| XM_017016432.2:c.-37G>C | XP_016871921.1:n.-37G>C | |
| NM_021800.3:c.210G>C MANE Select | NP_068572.1:p.Glu70Asp | |
| NM_201262.2:c.210G>C | NP_957714.1:p.Glu70Asp |