Linked Data
ClinVar Variation Id:
17557
ClinVar RCV Id:
RCV000019112
dbSNP Id:
rs66468541
PubMed:
PMID:11898127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197497275C>T , CM000664.2:g.197497275C>T | GRCh38 |
| NC_000002.11:g.198361999C>T , CM000664.1:g.198361999C>T | GRCh37 |
| NC_000002.10:g.198070244C>T | NCBI36 |
| NG_008914.1:g.2279C>T | |
| NG_008915.1:g.8000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.292G>A MANE Select | ENSP00000373620.3:p.Val98Ile | |
| ENST00000418022.2:c.292G>A | ENSP00000412227.2:p.Val98Ile | |
| ENST00000426480.2:c.292G>A | ENSP00000414446.2:p.Val98Ile | |
| ENST00000428204.6:c.292G>A | ENSP00000396460.2:p.Val98Ile | |
| ENST00000430176.6:c.292G>A | ENSP00000393670.2:p.Val98Ile | |
| ENST00000439605.2:c.292G>A | ENSP00000402478.2:p.Val98Ile | |
| ENST00000440114.2:c.*98G>A | ENSP00000390404.1:n.*98G>A | |
| ENST00000452200.6:c.292G>A | ENSP00000412717.2:p.Val98Ile | |
| ENST00000461097.2:n.330G>A | ||
| ENST00000476746.6:n.393G>A | ||
| ENST00000676933.1:c.292G>A | ENSP00000503144.1:p.Val98Ile | |
| ENST00000677403.1:c.292G>A | ENSP00000504667.1:p.Val98Ile | |
| ENST00000677454.1:c.292G>A | ENSP00000503295.1:p.Val98Ile | |
| ENST00000677792.1:c.292G>A | ENSP00000504645.1:p.Val98Ile | |
| ENST00000677913.1:c.292G>A | ENSP00000503139.1:p.Val98Ile | |
| ENST00000678170.1:c.292G>A | ENSP00000503910.1:p.Val98Ile | |
| ENST00000678545.1:c.292G>A | ENSP00000502920.1:p.Val98Ile | |
| ENST00000678621.1:c.292G>A | ENSP00000504328.1:p.Val98Ile | |
| ENST00000678761.1:c.292G>A | ENSP00000503894.1:p.Val98Ile | |
| ENST00000678969.1:n.392G>A | ||
| ENST00000679291.1:c.292G>A | ENSP00000504417.1:p.Val98Ile | |
| ENST00000345042.6:c.292G>A | ENSP00000340019.2:p.Val98Ile | |
| ENST00000388968.7:c.292G>A | ENSP00000373620.3:p.Val98Ile | |
| ENST00000426480.1:c.418G>A | ENSP00000414446.1:p.Val140Ile | |
| ENST00000430176.5:c.292G>A | ENSP00000393670.1:p.Val98Ile | |
| ENST00000440114.1:c.*98G>A | ENSP00000390404.1:n.*98G>A | |
| ENST00000452200.5:c.292G>A | ENSP00000412717.1:p.Val98Ile | |
| ENST00000461097.1:n.330G>A | ||
| ENST00000476746.5:n.392G>A | ||
| ENST00000486181.5:n.233G>A | ||
| NM_002156.4:c.292G>A | NP_002147.2:p.Val98Ile | |
| NM_199440.1:c.292G>A | NP_955472.1:p.Val98Ile | |
| XM_005246518.2:c.292G>A | XP_005246575.1:p.Val98Ile | |
| NM_002156.5:c.292G>A MANE Select | NP_002147.2:p.Val98Ile | |
| NM_199440.2:c.292G>A | NP_955472.1:p.Val98Ile |