Linked Data
ClinVar Variation Id:
575881
ClinVar RCV Id:
RCV000698221
dbSNP Id:
rs779094715
ExAC:
10:82036155 G / A
gnomAD v2:
10-82036155-G-A
gnomAD v4:
10-80276399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276399G>A , CM000672.2:g.80276399G>A | GRCh38 |
| NC_000010.10:g.82036155G>A , CM000672.1:g.82036155G>A | GRCh37 |
| NC_000010.9:g.82026135G>A | NCBI36 |
| NG_008083.1:g.18280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.745C>T MANE Select | ENSP00000361287.3:p.Arg249Trp | |
| ENST00000372213.7:c.745C>T | ENSP00000361287.3:p.Arg249Trp | |
| NM_000429.2:c.745C>T | NP_000420.1:p.Arg249Trp | |
| XM_005269842.3:c.745C>T | XP_005269899.1:p.Arg249Trp | |
| XM_005269843.3:c.622C>T | XP_005269900.1:p.Arg208Trp | |
| NM_000429.3:c.745C>T MANE Select | NP_000420.1:p.Arg249Trp |