Linked Data
ClinVar Variation Id:
286946
dbSNP Id:
rs138509553
ExAC:
2:202490818 C / T
gnomAD v2:
2-202490818-C-T
gnomAD v3:
2-201626095-C-T
gnomAD v4:
2-201626095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201626095C>T , CM000664.2:g.201626095C>T | GRCh38 |
| NC_000002.11:g.202490818C>T , CM000664.1:g.202490818C>T | GRCh37 |
| NC_000002.10:g.202199063C>T | NCBI36 |
| NG_032049.1:g.22435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.886G>A | ||
| ENST00000621467.5:c.964G>A | ENSP00000480508.2:p.Val322Met | |
| ENST00000686475.1:n.1030G>A | ||
| ENST00000409883.7:c.1090G>A MANE Select | ENSP00000386264.2:p.Val364Met | |
| ENST00000286196.9:c.*654G>A | ENSP00000286196.5:n.*654G>A | |
| ENST00000409444.6:c.1066G>A | ENSP00000387203.2:p.Val356Met | |
| ENST00000409883.6:c.1090G>A | ENSP00000386264.2:p.Val364Met | |
| ENST00000471318.5:n.318G>A | ||
| ENST00000495329.1:n.229G>A | ||
| ENST00000621467.4:c.1066G>A | ENSP00000480508.1:p.Val356Met | |
| NM_001044385.2:c.1090G>A | NP_001037850.1:p.Val364Met | |
| NM_152388.3:c.1066G>A | NP_689601.2:p.Val356Met | |
| NM_001044385.3:c.1090G>A MANE Select | NP_001037850.1:p.Val364Met | |
| NM_152388.4:c.1066G>A | NP_689601.2:p.Val356Met |