Linked Data
ClinVar Variation Id:
2963374
ClinVar RCV Id:
RCV003823028
dbSNP Id:
rs577397456
ExAC:
2:26705475 A / C
gnomAD v2:
2-26705475-A-C
gnomAD v3:
2-26482607-A-C
gnomAD v4:
2-26482607-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482607A>C , CM000664.2:g.26482607A>C | GRCh38 |
| NC_000002.11:g.26705475A>C , CM000664.1:g.26705475A>C | GRCh37 |
| NC_000002.10:g.26558979A>C | NCBI36 |
| NG_009937.1:g.81092T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1393-15T>G MANE Select | ENSP00000272371.2:n.1393-15T>G | |
| ENST00000272371.6:c.1393-15T>G | ENSP00000272371.2:n.1393-15T>G | |
| ENST00000403946.7:c.1393-15T>G | ENSP00000385255.3:n.1393-15T>G | |
| NM_001287489.1:c.1393-15T>G | NP_001274418.1:n.1393-15T>G | |
| NM_194248.2:c.1393-15T>G | NP_919224.1:n.1393-15T>G | |
| XM_005264644.2:c.1438-15T>G | XP_005264701.1:n.1438-15T>G | |
| XM_011533185.1:c.1438-15T>G | XP_011531487.1:n.1438-15T>G | |
| XM_017005338.1:c.1393-15T>G | XP_016860827.1:n.1393-15T>G | |
| NM_001287489.2:c.1393-15T>G | NP_001274418.1:n.1393-15T>G | |
| NM_194248.3:c.1393-15T>G MANE Select | NP_919224.1:n.1393-15T>G |