Linked Data
dbSNP Id:
rs768272074
ExAC:
1:235922629 C / A
gnomAD v2:
1-235922629-C-A
gnomAD v4:
1-235759329-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235759329C>A , CM000663.2:g.235759329C>A | GRCh38 |
| NC_000001.10:g.235922629C>A , CM000663.1:g.235922629C>A | GRCh37 |
| NC_000001.9:g.233989252C>A | NCBI36 |
| NG_007397.1:g.129312G>T , LRG_143:g.129312G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.1199G>T | ENSP00000513165.1:p.Cys400Phe | |
| ENST00000697178.1:c.*1948G>T | ENSP00000513163.1:n.*1948G>T | |
| ENST00000697236.1:c.233G>T | ENSP00000513203.1:p.Cys78Phe | |
| ENST00000697241.1:c.956G>T | ENSP00000513206.1:p.Cys319Phe | |
| ENST00000389793.7:c.6524G>T MANE Select | ENSP00000374443.2:p.Cys2175Phe | |
| ENST00000389793.6:c.6524G>T | ENSP00000374443.2:p.Cys2175Phe | |
| ENST00000389794.7:c.*1948G>T | ENSP00000374444.4:n.*1948G>T | |
| ENST00000489585.5:n.6915G>T | ||
| NM_000081.3:c.6524G>T , LRG_143t1:c.6524G>T | NP_000072.2:p.Cys2175Phe | |
| NM_001301365.1:c.6524G>T , LRG_143t2:c.6524G>T | NP_001288294.1:p.Cys2175Phe | |
| XM_011544031.1:c.6524G>T | XP_011542333.1:p.Cys2175Phe | |
| XM_011544032.1:c.6524G>T | XP_011542334.1:p.Cys2175Phe | |
| XM_011544033.1:c.6524G>T | XP_011542335.1:p.Cys2175Phe | |
| XM_011544034.1:c.6386G>T | XP_011542336.1:p.Cys2129Phe | |
| XM_011544035.1:c.6524G>T | XP_011542337.1:p.Cys2175Phe | |
| XM_011544036.1:c.4187G>T | XP_011542338.1:p.Cys1396Phe | |
| XM_011544037.1:c.6524G>T | XP_011542339.1:p.Cys2175Phe | |
| XM_011544038.1:c.6524G>T | XP_011542340.1:p.Cys2175Phe | |
| XM_011544039.1:c.6524G>T | XP_011542341.1:p.Cys2175Phe | |
| XM_011544033.2:c.6524G>T | XP_011542335.1:p.Cys2175Phe | |
| XM_011544035.2:c.6524G>T | XP_011542337.1:p.Cys2175Phe | |
| XM_011544036.2:c.4187G>T | XP_011542338.1:p.Cys1396Phe | |
| XM_011544037.2:c.6524G>T | XP_011542339.1:p.Cys2175Phe | |
| XM_011544039.2:c.6524G>T | XP_011542341.1:p.Cys2175Phe | |
| XM_017000150.1:c.6524G>T | XP_016855639.1:p.Cys2175Phe | |
| XR_001736946.2:n.6706G>T | ||
| XR_001736947.1:n.6706G>T | ||
| XR_001736948.1:n.6706G>T | ||
| NM_000081.4:c.6524G>T MANE Select | NP_000072.2:p.Cys2175Phe |