Linked Data
ClinVar Variation Id:
650029
ClinVar RCV Id:
RCV000805103
dbSNP Id:
rs753697675
ExAC:
2:32460578 C / T
gnomAD v2:
2-32460578-C-T
gnomAD v3:
2-32235509-C-T
gnomAD v4:
2-32235509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32235509C>T , CM000664.2:g.32235509C>T | GRCh38 |
| NC_000002.11:g.32460578C>T , CM000664.1:g.32460578C>T | GRCh37 |
| NC_000002.10:g.32314082C>T | NCBI36 |
| NG_041780.1:g.35235G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.367G>A | ENSP00000498301.2:p.Val123Met | |
| ENST00000402280.6:c.2674G>A MANE Select | ENSP00000385428.1:p.Val892Met | |
| ENST00000404025.3:c.*380G>A | ENSP00000385090.3:n.*380G>A | |
| ENST00000652197.1:c.*404G>A | ENSP00000498301.1:n.*404G>A | |
| ENST00000342905.10:c.679G>A | ENSP00000339666.6:p.Val227Met | |
| ENST00000360906.9:c.2674G>A | ENSP00000354159.5:p.Val892Met | |
| ENST00000402280.5:c.2674G>A | ENSP00000385428.1:p.Val892Met | |
| ENST00000404025.2:c.2674G>A | ENSP00000385090.2:p.Val892Met | |
| NM_001199138.1:c.2674G>A | NP_001186067.1:p.Val892Met | |
| NM_001199139.1:c.2674G>A | NP_001186068.1:p.Val892Met | |
| NM_001302504.1:c.679G>A | NP_001289433.1:p.Val227Met | |
| NM_021209.4:c.2674G>A | NP_067032.3:p.Val892Met | |
| XR_001738872.1:n.2940G>A | ||
| NM_001199138.2:c.2674G>A MANE Select | NP_001186067.1:p.Val892Met |