Linked Data
ClinVar Variation Id:
2012550
ClinVar RCV Id:
RCV002843199
dbSNP Id:
rs1446922157
gnomAD v3:
1-197142888-A-G
gnomAD v4:
1-197142888-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142888A>G , CM000663.2:g.197142888A>G | GRCh38 |
| NC_000001.10:g.197112018A>G , CM000663.1:g.197112018A>G | GRCh37 |
| NC_000001.9:g.195378641A>G | NCBI36 |
| NG_015867.1:g.8807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.1364T>C MANE Select | ENSP00000356379.4:p.Val455Ala | |
| ENST00000679766.1:n.1581T>C | ||
| ENST00000680265.1:c.1364T>C | ENSP00000505384.1:p.Val455Ala | |
| ENST00000680710.1:c.1364T>C | ENSP00000506676.1:p.Val455Ala | |
| ENST00000681879.1:c.1364T>C | ENSP00000505363.1:p.Val455Ala | |
| ENST00000294732.11:c.1364T>C | ENSP00000294732.7:p.Val455Ala | |
| ENST00000367409.8:c.1364T>C | ENSP00000356379.4:p.Val455Ala | |
| ENST00000612785.1:c.561+803T>C | ENSP00000479244.1:n.561+803T>C | |
| NM_001206846.1:c.1364T>C | NP_001193775.1:p.Val455Ala | |
| NM_018136.4:c.1364T>C | NP_060606.3:p.Val455Ala | |
| NM_018136.5:c.1364T>C MANE Select | NP_060606.3:p.Val455Ala | |
| NM_001206846.2:c.1364T>C | NP_001193775.1:p.Val455Ala |