Linked Data
ClinVar Variation Id:
896
ClinVar RCV Id:
RCV000000944
dbSNP Id:
rs121918175
ExAC:
7:65439910 G / A
gnomAD v2:
7-65439910-G-A
gnomAD v4:
7-65974923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65974923G>A , CM000669.2:g.65974923G>A | GRCh38 |
| NC_000007.13:g.65439910G>A , CM000669.1:g.65439910G>A | GRCh37 |
| NC_000007.12:g.65077345G>A | NCBI36 |
| NG_016197.1:g.12392C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304895.9:c.1061C>T MANE Select | ENSP00000302728.4:p.Ala354Val | |
| ENST00000304895.8:c.1061C>T | ENSP00000302728.4:p.Ala354Val | |
| ENST00000421103.5:c.623C>T | ENSP00000391390.1:p.Ala208Val | |
| ENST00000430730.5:c.*328C>T | ENSP00000411859.1:n.*328C>T | |
| ENST00000447929.5:c.*441C>T | ENSP00000411262.1:n.*441C>T | |
| ENST00000465785.5:n.299-219C>T | ||
| ENST00000466883.5:n.1238C>T | ||
| ENST00000475316.5:n.304-219C>T | ||
| ENST00000479038.1:n.189-219C>T | ||
| ENST00000489482.1:n.84C>T | ||
| NM_000181.3:c.1061C>T | NP_000172.2:p.Ala354Val | |
| NM_001284290.1:c.623C>T | NP_001271219.1:p.Ala208Val | |
| NM_001293104.1:c.491C>T | NP_001280033.1:p.Ala164Val | |
| NM_001293105.1:c.404C>T | NP_001280034.1:p.Ala135Val | |
| NR_120531.1:n.1192C>T | ||
| XM_005250297.3:c.913-219C>T | XP_005250354.1:n.913-219C>T | |
| XM_011516113.1:c.560C>T | XP_011514415.1:p.Ala187Val | |
| XM_011516114.1:c.389C>T | XP_011514416.1:p.Ala130Val | |
| XR_927461.1:n.1187C>T | ||
| XM_005250297.4:c.913-219C>T | XP_005250354.1:n.913-219C>T | |
| XM_011516114.2:c.389C>T | XP_011514416.1:p.Ala130Val | |
| XM_017012091.1:c.412-219C>T | XP_016867580.1:n.412-219C>T | |
| XM_017012092.1:c.343-219C>T | XP_016867581.1:n.343-219C>T | |
| XM_017012093.2:c.241-219C>T | XP_016867582.1:n.241-219C>T | |
| XR_001744658.2:n.958-219C>T | ||
| XR_001744659.2:n.1106C>T | ||
| XR_001744660.2:n.958-219C>T | ||
| XR_001744661.2:n.958-219C>T | ||
| XR_927461.3:n.1106C>T | ||
| NM_000181.4:c.1061C>T MANE Select | NP_000172.2:p.Ala354Val | |
| NM_001284290.2:c.623C>T | NP_001271219.1:p.Ala208Val | |
| NM_001293104.2:c.491C>T | NP_001280033.1:p.Ala164Val | |
| NM_001293105.2:c.404C>T | NP_001280034.1:p.Ala135Val | |
| NR_120531.2:n.1091C>T |