Linked Data
ClinVar Variation Id:
1356850
ClinVar RCV Id:
RCV001870305
dbSNP Id:
rs769789184
ExAC:
10:69571358 C / A
gnomAD v2:
10-69571358-C-A
gnomAD v3:
10-67811600-C-A
gnomAD v4:
10-67811600-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811600C>A , CM000672.2:g.67811600C>A | GRCh38 |
| NC_000010.10:g.69571358C>A , CM000672.1:g.69571358C>A | GRCh37 |
| NC_000010.9:g.69241364C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.221G>T MANE Select | ENSP00000225171.2:p.Arg74Leu | |
| ENST00000225171.6:c.221G>T | ENSP00000225171.2:p.Arg74Leu | |
| ENST00000339758.7:c.221G>T | ENSP00000343575.6:p.Arg74Leu | |
| ENST00000480180.1:c.*240G>T | ENSP00000474804.1:n.*240G>T | |
| ENST00000480963.5:c.*141G>T | ENSP00000473979.1:n.*141G>T | |
| ENST00000483798.6:c.311G>T | ENSP00000474215.1:p.Arg104Leu | |
| NM_021800.2:c.221G>T | NP_068572.1:p.Arg74Leu | |
| NM_201262.1:c.221G>T | NP_957714.1:p.Arg74Leu | |
| XM_011539967.1:c.251G>T | XP_011538269.1:p.Arg84Leu | |
| XM_017016431.1:c.-26G>T | XP_016871920.1:n.-26G>T | |
| XM_017016432.2:c.-26G>T | XP_016871921.1:n.-26G>T | |
| NM_021800.3:c.221G>T MANE Select | NP_068572.1:p.Arg74Leu | |
| NM_201262.2:c.221G>T | NP_957714.1:p.Arg74Leu |