Linked Data
ClinVar Variation Id:
905
dbSNP Id:
rs121918181
ExAC:
7:65444769 G / A
gnomAD v2:
7-65444769-G-A
gnomAD v3:
7-65979782-G-A
gnomAD v4:
7-65979782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65979782G>A , CM000669.2:g.65979782G>A | GRCh38 |
| NC_000007.13:g.65444769G>A , CM000669.1:g.65444769G>A | GRCh37 |
| NC_000007.12:g.65082204G>A | NCBI36 |
| NG_016197.1:g.7533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.526C>T MANE Select | ENSP00000302728.4:p.Leu176Phe | |
| ENST00000304895.8:c.526C>T | ENSP00000302728.4:p.Leu176Phe | |
| ENST00000421103.5:c.474+52C>T | ENSP00000391390.1:n.474+52C>T | |
| ENST00000430730.5:c.396+442C>T | ENSP00000411859.1:n.396+442C>T | |
| ENST00000446111.1:c.397-241C>T | ENSP00000416793.1:n.397-241C>T | |
| ENST00000447929.5:c.397-241C>T | ENSP00000411262.1:n.397-241C>T | |
| ENST00000475316.5:n.115+2192C>T | ||
| ENST00000476486.5:n.385+52C>T | ||
| ENST00000478118.1:n.452C>T | ||
| ENST00000479038.1:n.188+442C>T | ||
| NM_000181.3:c.526C>T | NP_000172.2:p.Leu176Phe | |
| NM_001284290.1:c.474+52C>T | NP_001271219.1:n.474+52C>T | |
| NM_001293104.1:c.12-241C>T | NP_001280033.1:n.12-241C>T | |
| NM_001293105.1:c.67+442C>T | NP_001280034.1:n.67+442C>T | |
| NR_120531.1:n.657C>T | ||
| XM_005250297.3:c.526C>T | XP_005250354.1:p.Leu176Phe | |
| XM_011516113.1:c.68-241C>T | XP_011514415.1:n.68-241C>T | |
| XM_011516114.1:c.-160C>T | XP_011514416.1:n.-160C>T | |
| XR_927461.1:n.652C>T | ||
| XM_005250297.4:c.526C>T | XP_005250354.1:p.Leu176Phe | |
| XM_011516114.2:c.-160C>T | XP_011514416.1:n.-160C>T | |
| XM_017012091.1:c.68-241C>T | XP_016867580.1:n.68-241C>T | |
| XM_017012092.1:c.12-241C>T | XP_016867581.1:n.12-241C>T | |
| XM_017012093.2:c.-160C>T | XP_016867582.1:n.-160C>T | |
| XR_001744658.2:n.571C>T | ||
| XR_001744659.2:n.571C>T | ||
| XR_001744660.2:n.571C>T | ||
| XR_001744661.2:n.571C>T | ||
| XR_927461.3:n.571C>T | ||
| NM_000181.4:c.526C>T MANE Select | NP_000172.2:p.Leu176Phe | |
| NM_001284290.2:c.474+52C>T | NP_001271219.1:n.474+52C>T | |
| NM_001293104.2:c.12-241C>T | NP_001280033.1:n.12-241C>T | |
| NM_001293105.2:c.67+442C>T | NP_001280034.1:n.67+442C>T | |
| NR_120531.2:n.556C>T |