Linked Data
ClinVar Variation Id:
949906
ClinVar RCV Id:
RCV001221495
dbSNP Id:
rs1671141416
gnomAD v4:
2-39054643-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39054643C>T , CM000664.2:g.39054643C>T | GRCh38 |
| NC_000002.11:g.39281784C>T , CM000664.1:g.39281784C>T | GRCh37 |
| NC_000002.10:g.39135288C>T | NCBI36 |
| NG_007530.1:g.70821G>A , LRG_754:g.70821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.718G>A | ||
| ENST00000685782.1:n.1529G>A | ||
| ENST00000688189.1:n.456G>A | ||
| ENST00000689668.1:n.698G>A | ||
| ENST00000690679.1:c.791G>A | ||
| ENST00000690876.1:c.691G>A | ENSP00000508955.1:p.Val231Ile | |
| ENST00000691229.1:c.691G>A | ENSP00000510437.1:p.Val231Ile | |
| ENST00000692089.1:c.691G>A | ENSP00000508626.1:p.Val231Ile | |
| ENST00000402219.8:c.691G>A MANE Select | ENSP00000384675.2:p.Val231Ile | |
| ENST00000395038.6:c.691G>A | ENSP00000378479.2:p.Val231Ile | |
| ENST00000402219.6:c.691G>A | ENSP00000384675.2:p.Val231Ile | |
| ENST00000426016.5:c.691G>A | ENSP00000387784.1:p.Val231Ile | |
| NM_005633.3:c.691G>A , LRG_754t1:c.691G>A | NP_005624.2:p.Val231Ile | |
| XM_005264515.3:c.691G>A | XP_005264572.1:p.Val231Ile | |
| XM_011533060.1:c.784G>A | XP_011531362.1:p.Val262Ile | |
| XM_011533061.1:c.784G>A | XP_011531363.1:p.Val262Ile | |
| XM_011533062.1:c.670G>A | XP_011531364.1:p.Val224Ile | |
| XM_011533063.1:c.667G>A | XP_011531365.1:p.Val223Ile | |
| XM_011533064.1:c.520G>A | XP_011531366.1:p.Val174Ile | |
| XM_011533065.1:c.784G>A | XP_011531367.1:p.Val262Ile | |
| XM_005264515.4:c.691G>A | XP_005264572.1:p.Val231Ile | |
| XM_011533062.2:c.670G>A | XP_011531364.1:p.Val224Ile | |
| XM_011533064.2:c.520G>A | XP_011531366.1:p.Val174Ile | |
| NM_001382394.1:c.670G>A | NP_001369323.1:p.Val224Ile | |
| NM_001382395.1:c.691G>A | NP_001369324.1:p.Val231Ile | |
| NM_005633.4:c.691G>A MANE Select | NP_005624.2:p.Val231Ile |