Linked Data
ClinVar Variation Id:
1718310
ClinVar RCV Id:
RCV002299725
dbSNP Id:
rs1699347917
gnomAD v3:
3-30671990-G-T
gnomAD v4:
3-30671990-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30671990G>T , CM000665.2:g.30671990G>T | GRCh38 |
| NC_000003.11:g.30713482G>T , CM000665.1:g.30713482G>T | GRCh37 |
| NC_000003.10:g.30688486G>T | NCBI36 |
| NG_007490.1:g.70489G>T , LRG_779:g.70489G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.807G>T MANE Select | ENSP00000295754.5:p.Glu269Asp | |
| ENST00000672866.1:n.2403G>T | ||
| ENST00000295754.9:c.807G>T | ENSP00000295754.5:p.Glu269Asp | |
| ENST00000359013.4:c.882G>T | ENSP00000351905.4:p.Glu294Asp | |
| NM_001024847.2:c.882G>T , LRG_779t1:c.882G>T | NP_001020018.1:p.Glu294Asp | |
| NM_003242.5:c.807G>T | NP_003233.4:p.Glu269Asp | |
| XM_011534043.1:c.834G>T | XP_011532345.1:p.Glu278Asp | |
| XM_011534044.1:c.759G>T | XP_011532346.1:p.Glu253Asp | |
| XM_011534045.1:c.702G>T | XP_011532347.1:p.Glu234Asp | |
| XM_011534043.2:c.834G>T | XP_011532345.1:p.Glu278Asp | |
| XM_011534045.3:c.702G>T | XP_011532347.1:p.Glu234Asp | |
| XM_017007106.1:c.702G>T | XP_016862595.1:p.Glu234Asp | |
| NM_003242.6:c.807G>T MANE Select | NP_003233.4:p.Glu269Asp |