Linked Data
ClinVar Variation Id:
3059640
ClinVar RCV Id:
RCV003974611
dbSNP Id:
rs741326
ExAC:
2:71058835 A / G
gnomAD v2:
2-71058835-A-G
gnomAD v3:
2-70831704-A-G
gnomAD v4:
2-70831704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831704A>G , CM000664.2:g.70831704A>G | GRCh38 |
| NC_000002.11:g.71058835A>G , CM000664.1:g.71058835A>G | GRCh37 |
| NC_000002.10:g.70912343A>G | NCBI36 |
| NG_033914.1:g.9120T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.833T>C MANE Select | ENSP00000386378.3:p.Val278Ala | |
| ENST00000410009.4:c.833T>C | ENSP00000386378.3:p.Val278Ala | |
| NM_015717.4:c.833T>C | NP_056532.4:p.Val278Ala | |
| XM_011532874.1:c.833T>C | XP_011531176.1:p.Val278Ala | |
| XM_011532875.1:c.833T>C | XP_011531177.1:p.Val278Ala | |
| XM_011532876.1:c.833T>C | XP_011531178.1:p.Val278Ala | |
| XM_011532875.2:c.833T>C | XP_011531177.1:p.Val278Ala | |
| XM_011532876.2:c.833T>C | XP_011531178.1:p.Val278Ala | |
| NM_015717.5:c.833T>C MANE Select | NP_056532.4:p.Val278Ala |