Linked Data
ClinVar Variation Id:
129891
dbSNP Id:
rs1747682
ExAC:
10:13337588 G / A
gnomAD v2:
10-13337588-G-A
gnomAD v3:
10-13295588-G-A
gnomAD v4:
10-13295588-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13295588G>A , CM000672.2:g.13295588G>A | GRCh38 |
| NC_000010.10:g.13337588G>A , CM000672.1:g.13337588G>A | GRCh37 |
| NC_000010.9:g.13377594G>A | NCBI36 |
| NG_012862.1:g.9543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.153C>T MANE Select | ENSP00000263038.4:p.Asn51= | |
| ENST00000263038.8:c.153C>T | ENSP00000263038.4:p.Asn51= | |
| ENST00000396913.6:c.-148C>T | ENSP00000380121.2:n.-148C>T | |
| ENST00000396920.7:c.96C>T | ENSP00000380126.3:p.Asn32= | |
| ENST00000453759.6:c.-148C>T | ENSP00000412525.2:n.-148C>T | |
| ENST00000463730.1:n.208C>T | ||
| ENST00000479604.1:c.153C>T | ENSP00000420117.1:p.Asn51= | |
| NM_001037537.1:c.-148C>T | NP_001032626.1:n.-148C>T | |
| NM_006214.3:c.153C>T | NP_006205.1:p.Asn51= | |
| XM_005252469.2:c.198C>T | XP_005252526.1:p.Asn66= | |
| NM_001323080.1:c.-148C>T | NP_001310009.1:n.-148C>T | |
| NM_001323082.1:c.153C>T | NP_001310011.1:p.Asn51= | |
| NM_001323083.1:c.153C>T | NP_001310012.1:p.Asn51= | |
| NM_001323084.1:c.-148C>T | NP_001310013.1:n.-148C>T | |
| NM_006214.4:c.153C>T MANE Select | NP_006205.1:p.Asn51= | |
| NM_001037537.2:c.-148C>T | NP_001032626.1:n.-148C>T | |
| NM_001323080.2:c.-148C>T | NP_001310009.1:n.-148C>T | |
| NM_001323082.2:c.153C>T | NP_001310011.1:p.Asn51= | |
| NM_001323083.2:c.153C>T | NP_001310012.1:p.Asn51= | |
| NM_001323084.2:c.-148C>T | NP_001310013.1:n.-148C>T |