Linked Data
ClinVar Variation Id:
956243
ClinVar RCV Id:
RCV001229012
dbSNP Id:
rs934465837
gnomAD v2:
3-69168668-T-C
gnomAD v3:
3-69119517-T-C
gnomAD v4:
3-69119517-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119517T>C , CM000665.2:g.69119517T>C | GRCh38 |
| NC_000003.11:g.69168668T>C , CM000665.1:g.69168668T>C | GRCh37 |
| NC_000003.10:g.69251358T>C | NCBI36 |
| NG_041828.1:g.8079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.838A>G MANE Select | ENSP00000414670.3:p.Lys280Glu | |
| ENST00000420581.6:c.838A>G | ENSP00000414670.2:p.Lys280Glu | |
| ENST00000475434.1:c.838A>G | ENSP00000418645.1:p.Lys280Glu | |
| ENST00000489031.5:c.838A>G | ENSP00000417210.1:p.Lys280Glu | |
| NM_001304418.1:c.838A>G | NP_001291347.1:p.Lys280Glu | |
| NM_198271.4:c.838A>G | NP_938012.2:p.Lys280Glu | |
| NM_001304418.3:c.838A>G | NP_001291347.1:p.Lys280Glu | |
| NM_198271.5:c.838A>G MANE Select | NP_938012.2:p.Lys280Glu |