Linked Data
ClinVar Variation Id:
2150243
ClinVar RCV Id:
RCV003083377
dbSNP Id:
rs199533546
ExAC:
20:32883218 C / T
gnomAD v2:
20-32883218-C-T
gnomAD v3:
20-34295412-C-T
gnomAD v4:
20-34295412-C-T
COSMIC:
COSM1026016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34295412C>T , CM000682.2:g.34295412C>T | GRCh38 |
| NC_000020.10:g.32883218C>T , CM000682.1:g.32883218C>T | GRCh37 |
| NC_000020.9:g.32346879C>T | NCBI36 |
| NG_012630.1:g.21391G>A | |
| NG_012630.2:g.21391G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217426.7:c.202G>A MANE Select | ENSP00000217426.2:p.Val68Ile | |
| ENST00000217426.6:c.202G>A | ENSP00000217426.2:p.Val68Ile | |
| ENST00000468908.1:n.365G>A | ||
| ENST00000480653.5:n.249G>A | ||
| ENST00000538132.1:c.118G>A | ENSP00000442820.1:p.Val40Ile | |
| ENST00000606061.1:n.289G>A | ||
| NM_000687.2:c.202G>A | NP_000678.1:p.Val68Ile | |
| NM_001161766.1:c.118G>A | NP_001155238.1:p.Val40Ile | |
| XM_005260316.3:c.118G>A | XP_005260373.1:p.Val40Ile | |
| XM_005260317.1:c.118G>A | XP_005260374.1:p.Val40Ile | |
| XM_011528656.1:c.118G>A | XP_011526958.1:p.Val40Ile | |
| XM_011528657.1:c.118G>A | XP_011526959.1:p.Val40Ile | |
| XM_011528658.1:c.118G>A | XP_011526960.1:p.Val40Ile | |
| XM_011528659.1:c.118G>A | XP_011526961.1:p.Val40Ile | |
| XM_011528660.1:c.118G>A | XP_011526962.1:p.Val40Ile | |
| NM_000687.3:c.202G>A | NP_000678.1:p.Val68Ile | |
| NM_001322084.1:c.118G>A | NP_001309013.1:p.Val40Ile | |
| NM_001322085.1:c.118G>A | NP_001309014.1:p.Val40Ile | |
| NM_001322086.1:c.208G>A | NP_001309015.1:p.Val70Ile | |
| NM_001362750.1:c.202G>A | NP_001349679.1:p.Val68Ile | |
| XM_005260317.2:c.118G>A | XP_005260374.1:p.Val40Ile | |
| XM_011528656.3:c.208G>A | XP_011526958.2:p.Val70Ile | |
| XM_011528657.2:c.208G>A | XP_011526959.2:p.Val70Ile | |
| XM_011528658.3:c.208G>A | XP_011526960.2:p.Val70Ile | |
| XM_017027709.2:c.202G>A | XP_016883198.1:p.Val68Ile | |
| XM_017027710.2:c.-223G>A | XP_016883199.1:n.-223G>A | |
| NM_000687.4:c.202G>A MANE Select | NP_000678.1:p.Val68Ile | |
| NM_001322084.2:c.118G>A | NP_001309013.1:p.Val40Ile | |
| NM_001322085.2:c.118G>A | NP_001309014.1:p.Val40Ile | |
| NM_001322086.2:c.208G>A | NP_001309015.1:p.Val70Ile | |
| NM_001362750.2:c.202G>A | NP_001349679.1:p.Val68Ile | |
| NM_001161766.2:c.118G>A | NP_001155238.1:p.Val40Ile |