Linked Data
ClinVar Variation Id:
2242399
ClinVar RCV Id:
RCV002732277
dbSNP Id:
rs773578992
gnomAD v4:
17-63487034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487034G>A , CM000679.2:g.63487034G>A | GRCh38 |
| NC_000017.10:g.61564395G>A , CM000679.1:g.61564395G>A | GRCh37 |
| NC_000017.9:g.58918127G>A | NCBI36 |
| NG_011648.1:g.14962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2266G>A MANE Select | ENSP00000290866.4:p.Val756Met | |
| ENST00000290863.10:c.544G>A | ENSP00000290863.6:p.Val182Met | |
| ENST00000290866.9:c.2266G>A | ENSP00000290866.4:p.Val756Met | |
| ENST00000413513.7:c.544G>A | ENSP00000392247.3:p.Val182Met | |
| ENST00000428043.5:c.2266G>A | ENSP00000397593.2:p.Val756Met | |
| ENST00000577647.2:c.544G>A | ENSP00000464149.1:p.Val182Met | |
| ENST00000578839.5:c.*336G>A | ENSP00000462110.2:n.*336G>A | |
| ENST00000579204.1:c.447G>A | ENSP00000464629.1:n.447G>A | |
| ENST00000579314.5:c.544G>A | ENSP00000462599.1:p.Val182Met | |
| ENST00000579726.5:c.828G>A | ||
| ENST00000582005.5:c.*186G>A | ENSP00000462002.1:n.*186G>A | |
| ENST00000582761.1:c.34G>A | ENSP00000462909.1:p.Val12Met | |
| ENST00000584865.5:n.212G>A | ||
| NM_000789.3:c.2266G>A | NP_000780.1:p.Val756Met | |
| NM_001178057.1:c.544G>A | NP_001171528.1:p.Val182Met | |
| NM_152830.2:c.544G>A | NP_690043.1:p.Val182Met | |
| XM_005257110.1:c.1717G>A | XP_005257167.1:p.Val573Met | |
| XM_006721737.2:c.604G>A | XP_006721800.2:p.Val202Met | |
| XM_006721737.3:c.604G>A | XP_006721800.2:p.Val202Met | |
| NM_000789.4:c.2266G>A MANE Select | NP_000780.1:p.Val756Met | |
| NM_001178057.2:c.544G>A | NP_001171528.1:p.Val182Met | |
| NM_152830.3:c.544G>A | NP_690043.1:p.Val182Met | |
| NM_001382700.1:c.1699G>A | NP_001369629.1:p.Val567Met | |
| NM_001382701.1:c.1414G>A | NP_001369630.1:p.Val472Met | |
| NM_001382702.1:c.196G>A | NP_001369631.1:p.Val66Met | |
| NR_168483.1:n.566G>A |