Linked Data
ClinVar Variation Id:
1931636
ClinVar RCV Id:
RCV002605569
dbSNP Id:
rs1667345929
gnomAD v4:
1-235759288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235759288C>T , CM000663.2:g.235759288C>T | GRCh38 |
| NC_000001.10:g.235922588C>T , CM000663.1:g.235922588C>T | GRCh37 |
| NC_000001.9:g.233989211C>T | NCBI36 |
| NG_007397.1:g.129353G>A , LRG_143:g.129353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.1240G>A | ENSP00000513165.1:p.Asp414Asn | |
| ENST00000697178.1:c.*1989G>A | ENSP00000513163.1:n.*1989G>A | |
| ENST00000697236.1:c.274G>A | ENSP00000513203.1:p.Asp92Asn | |
| ENST00000697241.1:c.997G>A | ENSP00000513206.1:p.Asp333Asn | |
| ENST00000389793.7:c.6565G>A MANE Select | ENSP00000374443.2:p.Asp2189Asn | |
| ENST00000389793.6:c.6565G>A | ENSP00000374443.2:p.Asp2189Asn | |
| ENST00000389794.7:c.*1989G>A | ENSP00000374444.4:n.*1989G>A | |
| ENST00000489585.5:n.6956G>A | ||
| NM_000081.3:c.6565G>A , LRG_143t1:c.6565G>A | NP_000072.2:p.Asp2189Asn | |
| NM_001301365.1:c.6565G>A , LRG_143t2:c.6565G>A | NP_001288294.1:p.Asp2189Asn | |
| XM_011544031.1:c.6565G>A | XP_011542333.1:p.Asp2189Asn | |
| XM_011544032.1:c.6565G>A | XP_011542334.1:p.Asp2189Asn | |
| XM_011544033.1:c.6565G>A | XP_011542335.1:p.Asp2189Asn | |
| XM_011544034.1:c.6427G>A | XP_011542336.1:p.Asp2143Asn | |
| XM_011544035.1:c.6565G>A | XP_011542337.1:p.Asp2189Asn | |
| XM_011544036.1:c.4228G>A | XP_011542338.1:p.Asp1410Asn | |
| XM_011544037.1:c.6565G>A | XP_011542339.1:p.Asp2189Asn | |
| XM_011544038.1:c.6565G>A | XP_011542340.1:p.Asp2189Asn | |
| XM_011544039.1:c.6565G>A | XP_011542341.1:p.Asp2189Asn | |
| XM_011544033.2:c.6565G>A | XP_011542335.1:p.Asp2189Asn | |
| XM_011544035.2:c.6565G>A | XP_011542337.1:p.Asp2189Asn | |
| XM_011544036.2:c.4228G>A | XP_011542338.1:p.Asp1410Asn | |
| XM_011544037.2:c.6565G>A | XP_011542339.1:p.Asp2189Asn | |
| XM_011544039.2:c.6565G>A | XP_011542341.1:p.Asp2189Asn | |
| XM_017000150.1:c.6565G>A | XP_016855639.1:p.Asp2189Asn | |
| XR_001736946.2:n.6747G>A | ||
| XR_001736947.1:n.6747G>A | ||
| XR_001736948.1:n.6747G>A | ||
| NM_000081.4:c.6565G>A MANE Select | NP_000072.2:p.Asp2189Asn |