Linked Data
dbSNP Id:
rs569240271
gnomAD v2:
10-69571365-G-T
gnomAD v3:
10-67811607-G-T
gnomAD v4:
10-67811607-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811607G>T , CM000672.2:g.67811607G>T | GRCh38 |
| NC_000010.10:g.69571365G>T , CM000672.1:g.69571365G>T | GRCh37 |
| NC_000010.9:g.69241371G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225171.7:c.214C>A MANE Select | ENSP00000225171.2:p.Arg72= | |
| ENST00000225171.6:c.214C>A | ENSP00000225171.2:p.Arg72= | |
| ENST00000339758.7:c.214C>A | ENSP00000343575.6:p.Arg72= | |
| ENST00000480180.1:c.*233C>A | ENSP00000474804.1:n.*233C>A | |
| ENST00000480963.5:c.*134C>A | ENSP00000473979.1:n.*134C>A | |
| ENST00000483798.6:c.304C>A | ENSP00000474215.1:p.Arg102= | |
| NM_021800.2:c.214C>A | NP_068572.1:p.Arg72= | |
| NM_201262.1:c.214C>A | NP_957714.1:p.Arg72= | |
| XM_011539967.1:c.244C>A | XP_011538269.1:p.Arg82= | |
| XM_017016431.1:c.-33C>A | XP_016871920.1:n.-33C>A | |
| XM_017016432.2:c.-33C>A | XP_016871921.1:n.-33C>A | |
| NM_021800.3:c.214C>A MANE Select | NP_068572.1:p.Arg72= | |
| NM_201262.2:c.214C>A | NP_957714.1:p.Arg72= |