Linked Data
ClinVar Variation Id:
1024803
ClinVar RCV Id:
RCV001325029
dbSNP Id:
rs1435079305
gnomAD v2:
3-69168667-T-C
gnomAD v4:
3-69119516-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119516T>C , CM000665.2:g.69119516T>C | GRCh38 |
| NC_000003.11:g.69168667T>C , CM000665.1:g.69168667T>C | GRCh37 |
| NC_000003.10:g.69251357T>C | NCBI36 |
| NG_041828.1:g.8080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.839A>G MANE Select | ENSP00000414670.3:p.Lys280Arg | |
| ENST00000420581.6:c.839A>G | ENSP00000414670.2:p.Lys280Arg | |
| ENST00000475434.1:c.839A>G | ENSP00000418645.1:p.Lys280Arg | |
| ENST00000489031.5:c.839A>G | ENSP00000417210.1:p.Lys280Arg | |
| NM_001304418.1:c.839A>G | NP_001291347.1:p.Lys280Arg | |
| NM_198271.4:c.839A>G | NP_938012.2:p.Lys280Arg | |
| NM_001304418.3:c.839A>G | NP_001291347.1:p.Lys280Arg | |
| NM_198271.5:c.839A>G MANE Select | NP_938012.2:p.Lys280Arg |