Linked Data
ClinVar Variation Id:
1169625
ClinVar RCV Id:
RCV001521160
dbSNP Id:
rs3740049
ExAC:
10:69571336 G / A
gnomAD v2:
10-69571336-G-A
gnomAD v3:
10-67811578-G-A
gnomAD v4:
10-67811578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811578G>A , CM000672.2:g.67811578G>A | GRCh38 |
| NC_000010.10:g.69571336G>A , CM000672.1:g.69571336G>A | GRCh37 |
| NC_000010.9:g.69241342G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.243C>T MANE Select | ENSP00000225171.2:p.Ser81= | |
| ENST00000225171.6:c.243C>T | ENSP00000225171.2:p.Ser81= | |
| ENST00000339758.7:c.243C>T | ENSP00000343575.6:p.Ser81= | |
| ENST00000480180.1:c.*262C>T | ENSP00000474804.1:n.*262C>T | |
| ENST00000480963.5:c.*163C>T | ENSP00000473979.1:n.*163C>T | |
| ENST00000483798.6:c.333C>T | ENSP00000474215.1:p.Ser111= | |
| NM_021800.2:c.243C>T | NP_068572.1:p.Ser81= | |
| NM_201262.1:c.243C>T | NP_957714.1:p.Ser81= | |
| XM_011539967.1:c.273C>T | XP_011538269.1:p.Ser91= | |
| XM_017016431.1:c.-4C>T | XP_016871920.1:n.-4C>T | |
| XM_017016432.2:c.-4C>T | XP_016871921.1:n.-4C>T | |
| NM_021800.3:c.243C>T MANE Select | NP_068572.1:p.Ser81= | |
| NM_201262.2:c.243C>T | NP_957714.1:p.Ser81= |