Linked Data
ClinVar Variation Id:
1753183
ClinVar RCV Id:
RCV002354073
dbSNP Id:
rs1255533036
gnomAD v4:
12-40351539-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40351539G>A , CM000674.2:g.40351539G>A | GRCh38 |
| NC_000012.11:g.40745341G>A , CM000674.1:g.40745341G>A | GRCh37 |
| NC_000012.10:g.39031608G>A | NCBI36 |
| NG_011709.1:g.131529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.6382G>A MANE Select | ENSP00000298910.7:p.Val2128Ile | |
| ENST00000636518.1:c.179G>A | ||
| ENST00000679360.1:c.*5291G>A | ENSP00000505368.1:n.*5291G>A | |
| ENST00000679532.1:c.2156G>A | ||
| ENST00000679683.1:c.172G>A | ||
| ENST00000680018.1:c.1827G>A | ENSP00000505347.1:n.1827G>A | |
| ENST00000680422.1:c.2027G>A | ||
| ENST00000680425.1:c.1549G>A | ENSP00000506459.1:n.1549G>A | |
| ENST00000680453.1:c.1839G>A | ||
| ENST00000680790.1:c.6127G>A | ENSP00000505335.1:p.Val2043Ile | |
| ENST00000681136.1:n.2366G>A | ||
| ENST00000681696.1:c.2065G>A | ENSP00000505871.1:p.Val689Ile | |
| ENST00000298910.11:c.6382G>A | ENSP00000298910.7:p.Val2128Ile | |
| ENST00000430804.5:c.3678G>A | ||
| ENST00000479187.5:n.3063G>A | ||
| NM_198578.3:c.6382G>A | NP_940980.3:p.Val2128Ile | |
| XM_005268629.2:c.6382G>A | XP_005268686.1:p.Val2128Ile | |
| XM_011537877.1:c.6382G>A | XP_011536179.1:p.Val2128Ile | |
| XM_011537878.1:c.6382G>A | XP_011536180.1:p.Val2128Ile | |
| XM_011537879.1:c.5179G>A | XP_011536181.1:p.Val1727Ile | |
| XM_005268629.4:c.6382G>A | XP_005268686.1:p.Val2128Ile | |
| XM_011537877.3:c.6382G>A | XP_011536179.1:p.Val2128Ile | |
| XM_017018787.1:c.3298G>A | XP_016874276.1:p.Val1100Ile | |
| XM_017018788.2:c.2644G>A | XP_016874277.1:p.Val882Ile | |
| XM_024448833.1:c.5179G>A | XP_024304601.1:p.Val1727Ile | |
| NM_198578.4:c.6382G>A MANE Select | NP_940980.4:p.Val2128Ile |