Linked Data
ClinVar Variation Id:
528806
ClinVar RCV Id:
RCV000634036
dbSNP Id:
rs746870989
ExAC:
7:42079818 T / A
gnomAD v2:
7-42079818-T-A
gnomAD v3:
7-42040219-T-A
gnomAD v4:
7-42040219-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42040219T>A , CM000669.2:g.42040219T>A | GRCh38 |
| NC_000007.13:g.42079818T>A , CM000669.1:g.42079818T>A | GRCh37 |
| NC_000007.12:g.42046343T>A | NCBI36 |
| NG_008434.1:g.201801A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.847A>T MANE Select | ENSP00000379258.3:p.Arg283Trp | |
| ENST00000677288.1:c.670A>T | ENSP00000503986.1:p.Arg224Trp | |
| ENST00000677605.1:c.847A>T | ENSP00000503743.1:p.Arg283Trp | |
| ENST00000678429.1:c.847A>T | ENSP00000502957.1:p.Arg283Trp | |
| ENST00000395925.7:c.847A>T | ENSP00000379258.3:p.Arg283Trp | |
| ENST00000479210.1:n.824A>T | ||
| NM_000168.5:c.847A>T | NP_000159.3:p.Arg283Trp | |
| XM_005249703.1:c.847A>T | XP_005249760.1:p.Arg283Trp | |
| XM_005249704.2:c.847A>T | XP_005249761.1:p.Arg283Trp | |
| XM_011515272.1:c.847A>T | XP_011513574.1:p.Arg283Trp | |
| XM_011515273.1:c.847A>T | XP_011513575.1:p.Arg283Trp | |
| XM_011515274.1:c.670A>T | XP_011513576.1:p.Arg224Trp | |
| XM_011515274.2:c.670A>T | XP_011513576.1:p.Arg224Trp | |
| XM_017011997.1:c.844A>T | XP_016867486.1:p.Arg282Trp | |
| NM_000168.6:c.847A>T MANE Select | NP_000159.3:p.Arg283Trp |