Linked Data
ClinVar Variation Id:
478428
dbSNP Id:
rs766117149
ExAC:
3:52383272 C / T
gnomAD v2:
3-52383272-C-T
gnomAD v3:
3-52349256-C-T
gnomAD v4:
3-52349256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52349256C>T , CM000665.2:g.52349256C>T | GRCh38 |
| NC_000003.11:g.52383272C>T , CM000665.1:g.52383272C>T | GRCh37 |
| NC_000003.10:g.52358312C>T | NCBI36 |
| NG_052911.1:g.37938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.2362C>T MANE Select | ENSP00000401514.2:p.Arg788Trp | |
| ENST00000420323.6:c.2362C>T | ENSP00000401514.2:p.Arg788Trp | |
| ENST00000486752.5:n.2623C>T | ||
| ENST00000497875.1:n.2527C>T | ||
| NM_015512.4:c.2362C>T | NP_056327.4:p.Arg788Trp | |
| XM_011533577.1:c.2362C>T | XP_011531879.1:p.Arg788Trp | |
| XM_017006129.1:c.2362C>T | XP_016861618.1:p.Arg788Trp | |
| XM_017006130.1:c.2362C>T | XP_016861619.1:p.Arg788Trp | |
| XM_017006131.1:c.2362C>T | XP_016861620.1:p.Arg788Trp | |
| XM_017006132.1:c.2362C>T | XP_016861621.1:p.Arg788Trp | |
| XM_017006133.1:c.2362C>T | XP_016861622.1:p.Arg788Trp | |
| XR_001740098.1:n.5511C>T | ||
| XR_001740099.1:n.5511C>T | ||
| NM_015512.5:c.2362C>T MANE Select | NP_056327.4:p.Arg788Trp |