Linked Data
ClinVar Variation Id:
1427709
ClinVar RCV Id:
RCV001945989
dbSNP Id:
rs751310993
gnomAD v2:
3-121712509-C-T
gnomAD v3:
3-121993662-C-T
gnomAD v4:
3-121993662-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993662C>T , CM000665.2:g.121993662C>T | GRCh38 |
| NC_000003.11:g.121712509C>T , CM000665.1:g.121712509C>T | GRCh37 |
| NC_000003.10:g.123195199C>T | NCBI36 |
| NG_031870.1:g.33619G>A | |
| NG_031870.2:g.71893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.1087G>A MANE Select | ENSP00000345667.5:p.Asp363Asn | |
| ENST00000460554.2:n.1037G>A | ||
| ENST00000642615.1:c.*270G>A | ENSP00000495499.1:n.*270G>A | |
| ENST00000273691.7:c.955G>A | ENSP00000273691.3:p.Asp319Asn | |
| ENST00000344209.9:c.1087G>A | ENSP00000345667.5:p.Asp363Asn | |
| ENST00000393631.5:c.820G>A | ENSP00000377251.1:p.Asp274Asn | |
| ENST00000460554.1:n.1189G>A | ||
| ENST00000462014.1:c.991G>A | ENSP00000419414.1:p.Asp331Asn | |
| NM_001199799.1:c.1087G>A | NP_001186728.1:p.Asp363Asn | |
| NM_001199800.1:c.820G>A | NP_001186729.1:p.Asp274Asn | |
| NM_175924.3:c.955G>A | NP_787120.1:p.Asp319Asn | |
| XM_005247389.3:c.991G>A | XP_005247446.1:p.Asp331Asn | |
| XM_011512738.1:c.1087G>A | XP_011511040.1:p.Asp363Asn | |
| XM_011512739.1:c.550G>A | XP_011511041.1:p.Asp184Asn | |
| XM_005247389.4:c.991G>A | XP_005247446.1:p.Asp331Asn | |
| XM_011512738.2:c.1087G>A | XP_011511040.1:p.Asp363Asn | |
| XM_011512739.2:c.550G>A | XP_011511041.1:p.Asp184Asn | |
| NM_001199799.2:c.1087G>A MANE Select | NP_001186728.1:p.Asp363Asn | |
| NM_001199800.2:c.820G>A | NP_001186729.1:p.Asp274Asn | |
| NM_175924.4:c.955G>A | NP_787120.1:p.Asp319Asn |