Linked Data
ClinVar Variation Id:
2461303
ClinVar RCV Id:
RCV003179835
dbSNP Id:
rs769397961
ExAC:
17:61566119 G / A
gnomAD v2:
17-61566119-G-A
gnomAD v3:
17-63488758-G-A
gnomAD v4:
17-63488758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488758G>A , CM000679.2:g.63488758G>A | GRCh38 |
| NC_000017.10:g.61566119G>A , CM000679.1:g.61566119G>A | GRCh37 |
| NC_000017.9:g.58919851G>A | NCBI36 |
| NG_011648.1:g.16686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2416G>A MANE Select | ENSP00000290866.4:p.Val806Met | |
| ENST00000290863.10:c.694G>A | ENSP00000290863.6:p.Val232Met | |
| ENST00000290866.9:c.2416G>A | ENSP00000290866.4:p.Val806Met | |
| ENST00000413513.7:c.694G>A | ENSP00000392247.3:p.Val232Met | |
| ENST00000428043.5:c.2416G>A | ENSP00000397593.2:p.Val806Met | |
| ENST00000577647.2:c.694G>A | ENSP00000464149.1:p.Val232Met | |
| ENST00000578839.5:c.*486G>A | ENSP00000462110.2:n.*486G>A | |
| ENST00000579204.1:c.675G>A | ENSP00000464629.1:n.675G>A | |
| ENST00000579314.5:c.*145G>A | ENSP00000462599.1:n.*145G>A | |
| ENST00000582005.5:c.*336G>A | ENSP00000462002.1:n.*336G>A | |
| ENST00000582761.1:c.184G>A | ENSP00000462909.1:p.Val62Met | |
| ENST00000584865.5:n.362G>A | ||
| NM_000789.3:c.2416G>A | NP_000780.1:p.Val806Met | |
| NM_001178057.1:c.694G>A | NP_001171528.1:p.Val232Met | |
| NM_152830.2:c.694G>A | NP_690043.1:p.Val232Met | |
| XM_005257110.1:c.1867G>A | XP_005257167.1:p.Val623Met | |
| XM_006721737.2:c.754G>A | XP_006721800.2:p.Val252Met | |
| XM_006721737.3:c.754G>A | XP_006721800.2:p.Val252Met | |
| NM_000789.4:c.2416G>A MANE Select | NP_000780.1:p.Val806Met | |
| NM_001178057.2:c.694G>A | NP_001171528.1:p.Val232Met | |
| NM_152830.3:c.694G>A | NP_690043.1:p.Val232Met | |
| NM_001382700.1:c.1849G>A | NP_001369629.1:p.Val617Met | |
| NM_001382701.1:c.1564G>A | NP_001369630.1:p.Val522Met | |
| NM_001382702.1:c.346G>A | NP_001369631.1:p.Val116Met | |
| NR_168483.1:n.794G>A |