Linked Data
ClinVar Variation Id:
895172
ClinVar RCV Id:
RCV001137105
dbSNP Id:
rs779693261
ExAC:
2:26706372 G / C
gnomAD v2:
2-26706372-G-C
gnomAD v3:
2-26483504-G-C
gnomAD v4:
2-26483504-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26483504G>C , CM000664.2:g.26483504G>C | GRCh38 |
| NC_000002.11:g.26706372G>C , CM000664.1:g.26706372G>C | GRCh37 |
| NC_000002.10:g.26559876G>C | NCBI36 |
| NG_009937.1:g.80195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1350C>G MANE Select | ENSP00000272371.2:p.Asp450Glu | |
| ENST00000272371.6:c.1350C>G | ENSP00000272371.2:p.Asp450Glu | |
| ENST00000403946.7:c.1350C>G | ENSP00000385255.3:p.Asp450Glu | |
| NM_001287489.1:c.1350C>G | NP_001274418.1:p.Asp450Glu | |
| NM_194248.2:c.1350C>G | NP_919224.1:p.Asp450Glu | |
| XM_005264644.2:c.1395C>G | XP_005264701.1:p.Asp465Glu | |
| XM_011533185.1:c.1395C>G | XP_011531487.1:p.Asp465Glu | |
| XM_017005338.1:c.1350C>G | XP_016860827.1:p.Asp450Glu | |
| NM_001287489.2:c.1350C>G | NP_001274418.1:p.Asp450Glu | |
| NM_194248.3:c.1350C>G MANE Select | NP_919224.1:p.Asp450Glu |