Linked Data
dbSNP Id:
rs759123944
ExAC:
10:69571372 T / G
gnomAD v2:
10-69571372-T-G
gnomAD v3:
10-67811614-T-G
gnomAD v4:
10-67811614-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811614T>G , CM000672.2:g.67811614T>G | GRCh38 |
| NC_000010.10:g.69571372T>G , CM000672.1:g.69571372T>G | GRCh37 |
| NC_000010.9:g.69241378T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225171.7:c.207A>C MANE Select | ENSP00000225171.2:p.Glu69Asp | |
| ENST00000225171.6:c.207A>C | ENSP00000225171.2:p.Glu69Asp | |
| ENST00000339758.7:c.207A>C | ENSP00000343575.6:p.Glu69Asp | |
| ENST00000480180.1:c.*226A>C | ENSP00000474804.1:n.*226A>C | |
| ENST00000480963.5:c.*127A>C | ENSP00000473979.1:n.*127A>C | |
| ENST00000483798.6:c.297A>C | ENSP00000474215.1:p.Glu99Asp | |
| NM_021800.2:c.207A>C | NP_068572.1:p.Glu69Asp | |
| NM_201262.1:c.207A>C | NP_957714.1:p.Glu69Asp | |
| XM_011539967.1:c.237A>C | XP_011538269.1:p.Glu79Asp | |
| XM_017016431.1:c.-40A>C | XP_016871920.1:n.-40A>C | |
| XM_017016432.2:c.-40A>C | XP_016871921.1:n.-40A>C | |
| NM_021800.3:c.207A>C MANE Select | NP_068572.1:p.Glu69Asp | |
| NM_201262.2:c.207A>C | NP_957714.1:p.Glu69Asp |