Linked Data
ClinVar Variation Id:
495701
dbSNP Id:
rs141014950
gnomAD v3:
9-6604775-A-G
gnomAD v4:
9-6604775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604775A>G , CM000671.2:g.6604775A>G | GRCh38 |
| NC_000009.11:g.6604775A>G , CM000671.1:g.6604775A>G | GRCh37 |
| NC_000009.10:g.6594775A>G | NCBI36 |
| NG_016397.1:g.45918T>C , LRG_643:g.45918T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.871T>C MANE Select | ENSP00000370737.4:p.Cys291Arg | |
| ENST00000638654.1:c.118T>C | ENSP00000491101.1:p.Cys40Arg | |
| ENST00000639364.1:n.571T>C | ||
| ENST00000639443.1:n.439T>C | ||
| ENST00000639493.1:n.23T>C | ||
| ENST00000639954.1:n.579T>C | ||
| ENST00000640592.1:n.754T>C | ||
| ENST00000321612.6:c.871T>C | ENSP00000370737.3:p.Cys291Arg | |
| ENST00000463305.1:n.142+356T>C | ||
| NM_000170.2:c.871T>C , LRG_643t1:c.871T>C | NP_000161.2:p.Cys291Arg | |
| NM_000170.3:c.871T>C MANE Select | NP_000161.2:p.Cys291Arg |