Linked Data
ClinVar Variation Id:
2011094
ClinVar RCV Id:
RCV002829243
dbSNP Id:
rs1296991756
gnomAD v2:
20-45242234-A-C
gnomAD v4:
20-46613595-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46613595A>C , CM000682.2:g.46613595A>C | GRCh38 |
| NC_000020.10:g.45242234A>C , CM000682.1:g.45242234A>C | GRCh37 |
| NC_000020.9:g.44675641A>C | NCBI36 |
| NG_047182.1:g.75891T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.242T>G MANE Select | ENSP00000279027.4:p.Val81Gly | |
| ENST00000279027.8:c.242T>G | ENSP00000279027.4:p.Val81Gly | |
| ENST00000290317.9:c.101T>G | ENSP00000290317.5:p.Val34Gly | |
| ENST00000372121.5:c.101T>G | ENSP00000361193.2:p.Val34Gly | |
| ENST00000413164.6:c.242T>G | ENSP00000415852.2:p.Val81Gly | |
| ENST00000417157.2:c.101T>G | ENSP00000397955.2:p.Val34Gly | |
| ENST00000420568.5:c.131T>G | ENSP00000395095.1:p.Val44Gly | |
| ENST00000468915.5:c.101T>G | ENSP00000417784.1:p.Val34Gly | |
| ENST00000472148.5:c.101T>G | ENSP00000420177.1:p.Val34Gly | |
| ENST00000495082.5:c.101T>G | ENSP00000419621.1:p.Val34Gly | |
| NM_001011554.2:c.101T>G | NP_001011554.1:p.Val34Gly | |
| NM_001193339.1:c.242T>G | NP_001180268.1:p.Val81Gly | |
| NM_001193340.1:c.101T>G | NP_001180269.1:p.Val34Gly | |
| NM_001193342.1:c.-10-43T>G | NP_001180271.1:n.-10-43T>G | |
| NM_022829.5:c.242T>G | NP_073740.2:p.Val81Gly | |
| NM_022829.6:c.242T>G MANE Select | NP_073740.2:p.Val81Gly | |
| NM_001011554.3:c.101T>G | NP_001011554.1:p.Val34Gly | |
| NM_001193339.2:c.242T>G | NP_001180268.1:p.Val81Gly | |
| NM_001193340.2:c.101T>G | NP_001180269.1:p.Val34Gly | |
| NM_001193342.2:c.-10-43T>G | NP_001180271.1:n.-10-43T>G |