Linked Data
ClinVar Variation Id:
426696
dbSNP Id:
rs148371004
ExAC:
1:235922765 C / T
gnomAD v2:
1-235922765-C-T
gnomAD v3:
1-235759465-C-T
gnomAD v4:
1-235759465-C-T
COSMIC:
COSM905893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235759465C>T , CM000663.2:g.235759465C>T | GRCh38 |
| NC_000001.10:g.235922765C>T , CM000663.1:g.235922765C>T | GRCh37 |
| NC_000001.9:g.233989388C>T | NCBI36 |
| NG_007397.1:g.129176G>A , LRG_143:g.129176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.1063G>A | ENSP00000513165.1:p.Asp355Asn | |
| ENST00000697178.1:c.*1812G>A | ENSP00000513163.1:n.*1812G>A | |
| ENST00000697180.1:c.893G>A | ||
| ENST00000697236.1:c.97G>A | ENSP00000513203.1:p.Asp33Asn | |
| ENST00000697241.1:c.820G>A | ENSP00000513206.1:p.Asp274Asn | |
| ENST00000389793.7:c.6388G>A MANE Select | ENSP00000374443.2:p.Asp2130Asn | |
| ENST00000389793.6:c.6388G>A | ENSP00000374443.2:p.Asp2130Asn | |
| ENST00000389794.7:c.*1812G>A | ENSP00000374444.4:n.*1812G>A | |
| ENST00000489585.5:n.6779G>A | ||
| NM_000081.3:c.6388G>A , LRG_143t1:c.6388G>A | NP_000072.2:p.Asp2130Asn | |
| NM_001301365.1:c.6388G>A , LRG_143t2:c.6388G>A | NP_001288294.1:p.Asp2130Asn | |
| XM_011544031.1:c.6388G>A | XP_011542333.1:p.Asp2130Asn | |
| XM_011544032.1:c.6388G>A | XP_011542334.1:p.Asp2130Asn | |
| XM_011544033.1:c.6388G>A | XP_011542335.1:p.Asp2130Asn | |
| XM_011544034.1:c.6250G>A | XP_011542336.1:p.Asp2084Asn | |
| XM_011544035.1:c.6388G>A | XP_011542337.1:p.Asp2130Asn | |
| XM_011544036.1:c.4051G>A | XP_011542338.1:p.Asp1351Asn | |
| XM_011544037.1:c.6388G>A | XP_011542339.1:p.Asp2130Asn | |
| XM_011544038.1:c.6388G>A | XP_011542340.1:p.Asp2130Asn | |
| XM_011544039.1:c.6388G>A | XP_011542341.1:p.Asp2130Asn | |
| XM_011544033.2:c.6388G>A | XP_011542335.1:p.Asp2130Asn | |
| XM_011544035.2:c.6388G>A | XP_011542337.1:p.Asp2130Asn | |
| XM_011544036.2:c.4051G>A | XP_011542338.1:p.Asp1351Asn | |
| XM_011544037.2:c.6388G>A | XP_011542339.1:p.Asp2130Asn | |
| XM_011544039.2:c.6388G>A | XP_011542341.1:p.Asp2130Asn | |
| XM_017000150.1:c.6388G>A | XP_016855639.1:p.Asp2130Asn | |
| XR_001736946.2:n.6570G>A | ||
| XR_001736947.1:n.6570G>A | ||
| XR_001736948.1:n.6570G>A | ||
| XR_002959252.1:n.6479G>A | ||
| NM_000081.4:c.6388G>A MANE Select | NP_000072.2:p.Asp2130Asn |