Linked Data
ClinVar Variation Id:
1307795
dbSNP Id:
rs759404744
ExAC:
3:119133190 A / T
gnomAD v2:
3-119133190-A-T
gnomAD v3:
3-119414343-A-T
gnomAD v4:
3-119414343-A-T
COSMIC:
COSM3119897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414343A>T , CM000665.2:g.119414343A>T | GRCh38 |
| NC_000003.11:g.119133190A>T , CM000665.1:g.119133190A>T | GRCh37 |
| NC_000003.10:g.120615880A>T | NCBI36 |
| NG_007665.2:g.124971A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2414A>T MANE Select | ENSP00000264245.4:p.Glu805Val | |
| ENST00000264245.8:c.2414A>T | ENSP00000264245.4:p.Glu805Val | |
| NM_020754.3:c.2414A>T | NP_065805.2:p.Glu805Val | |
| XM_005247671.3:c.2321A>T | XP_005247728.1:p.Glu774Val | |
| XM_006713714.2:c.2354A>T | XP_006713777.1:p.Glu785Val | |
| XM_006713714.3:c.2354A>T | XP_006713777.1:p.Glu785Val | |
| XM_017006955.1:c.1922A>T | XP_016862444.1:p.Glu641Val | |
| NM_020754.4:c.2414A>T MANE Select | NP_065805.2:p.Glu805Val |