Linked Data
ClinVar Variation Id:
45829
dbSNP Id:
rs34768413
ExAC:
7:92085763 C / T
gnomAD v2:
7-92085763-C-T
gnomAD v3:
7-92456449-C-T
gnomAD v4:
7-92456449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92456449C>T , CM000669.2:g.92456449C>T | GRCh38 |
| NC_000007.13:g.92085763C>T , CM000669.1:g.92085763C>T | GRCh37 |
| NC_000007.12:g.91923699C>T | NCBI36 |
| NG_032807.1:g.14002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287957.5:c.697C>T MANE Select | ENSP00000287957.3:p.Arg233Trp | |
| ENST00000645746.1:c.*288C>T | ENSP00000493785.1:n.*288C>T | |
| ENST00000287957.3:c.697C>T | ENSP00000287957.3:p.Arg233Trp | |
| ENST00000465247.1:n.709C>T | ||
| ENST00000493878.1:n.1305C>T | ||
| NM_021167.4:c.697C>T | NP_066990.3:p.Arg233Trp | |
| NR_052016.1:n.979C>T | ||
| XM_011516443.1:c.484C>T | XP_011514745.1:p.Arg162Trp | |
| XR_428182.2:n.1074C>T | ||
| XR_927494.1:n.874+1764C>T | ||
| XR_927495.1:n.874+1764C>T | ||
| XR_927496.1:n.874+1764C>T | ||
| XR_927497.1:n.874+1764C>T | ||
| XR_927498.1:n.874+1764C>T | ||
| XR_927499.1:n.874+1764C>T | ||
| XR_927500.1:n.874+1764C>T | ||
| XR_927501.1:n.874+1764C>T | ||
| XR_927502.1:n.874+1764C>T | ||
| XR_927503.1:n.874+1764C>T | ||
| XR_927504.1:n.874+1764C>T | ||
| XM_024446850.1:c.484C>T | XP_024302618.1:p.Arg162Trp | |
| XR_001744842.2:n.979C>T | ||
| XR_001744843.2:n.979C>T | ||
| XR_002956472.1:n.979C>T | ||
| XR_002956473.1:n.979C>T | ||
| XR_002956474.1:n.979C>T | ||
| XR_002956475.1:n.2554C>T | ||
| XR_002956476.1:n.1067C>T | ||
| XR_927494.3:n.901+1764C>T | ||
| XR_927500.3:n.901+1764C>T | ||
| XR_927503.3:n.901+1764C>T | ||
| NM_021167.5:c.697C>T MANE Select | NP_066990.3:p.Arg233Trp | |
| NR_052016.2:n.945C>T |