Linked Data
ClinVar Variation Id:
2637243
ClinVar RCV Id:
RCV003403049
dbSNP Id:
rs1341328808
gnomAD v4:
2-39054721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39054721C>T , CM000664.2:g.39054721C>T | GRCh38 |
| NC_000002.11:g.39281862C>T , CM000664.1:g.39281862C>T | GRCh37 |
| NC_000002.10:g.39135366C>T | NCBI36 |
| NG_007530.1:g.70743G>A , LRG_754:g.70743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.640G>A | ||
| ENST00000685782.1:n.1451G>A | ||
| ENST00000688189.1:n.378G>A | ||
| ENST00000689668.1:n.620G>A | ||
| ENST00000690679.1:c.713G>A | ||
| ENST00000690876.1:c.613G>A | ENSP00000508955.1:p.Val205Ile | |
| ENST00000691229.1:c.613G>A | ENSP00000510437.1:p.Val205Ile | |
| ENST00000692089.1:c.613G>A | ENSP00000508626.1:p.Val205Ile | |
| ENST00000402219.8:c.613G>A MANE Select | ENSP00000384675.2:p.Val205Ile | |
| ENST00000395038.6:c.613G>A | ENSP00000378479.2:p.Val205Ile | |
| ENST00000402219.6:c.613G>A | ENSP00000384675.2:p.Val205Ile | |
| ENST00000426016.5:c.613G>A | ENSP00000387784.1:p.Val205Ile | |
| NM_005633.3:c.613G>A , LRG_754t1:c.613G>A | NP_005624.2:p.Val205Ile | |
| XM_005264515.3:c.613G>A | XP_005264572.1:p.Val205Ile | |
| XM_011533060.1:c.706G>A | XP_011531362.1:p.Val236Ile | |
| XM_011533061.1:c.706G>A | XP_011531363.1:p.Val236Ile | |
| XM_011533062.1:c.592G>A | XP_011531364.1:p.Val198Ile | |
| XM_011533063.1:c.589G>A | XP_011531365.1:p.Val197Ile | |
| XM_011533064.1:c.442G>A | XP_011531366.1:p.Val148Ile | |
| XM_011533065.1:c.706G>A | XP_011531367.1:p.Val236Ile | |
| XM_005264515.4:c.613G>A | XP_005264572.1:p.Val205Ile | |
| XM_011533062.2:c.592G>A | XP_011531364.1:p.Val198Ile | |
| XM_011533064.2:c.442G>A | XP_011531366.1:p.Val148Ile | |
| NM_001382394.1:c.592G>A | NP_001369323.1:p.Val198Ile | |
| NM_001382395.1:c.613G>A | NP_001369324.1:p.Val205Ile | |
| NM_005633.4:c.613G>A MANE Select | NP_005624.2:p.Val205Ile |