Linked Data
ClinVar Variation Id:
1276477
ClinVar RCV Id:
RCV001687669
dbSNP Id:
rs74802025
gnomAD v2:
2-26705527-G-T
gnomAD v3:
2-26482659-G-T
gnomAD v4:
2-26482659-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482659G>T , CM000664.2:g.26482659G>T | GRCh38 |
| NC_000002.11:g.26705527G>T , CM000664.1:g.26705527G>T | GRCh37 |
| NC_000002.10:g.26559031G>T | NCBI36 |
| NG_009937.1:g.81040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1393-67C>A MANE Select | ENSP00000272371.2:n.1393-67C>A | |
| ENST00000272371.6:c.1393-67C>A | ENSP00000272371.2:n.1393-67C>A | |
| ENST00000403946.7:c.1393-67C>A | ENSP00000385255.3:n.1393-67C>A | |
| NM_001287489.1:c.1393-67C>A | NP_001274418.1:n.1393-67C>A | |
| NM_194248.2:c.1393-67C>A | NP_919224.1:n.1393-67C>A | |
| XM_005264644.2:c.1438-67C>A | XP_005264701.1:n.1438-67C>A | |
| XM_011533185.1:c.1438-67C>A | XP_011531487.1:n.1438-67C>A | |
| XM_017005338.1:c.1393-67C>A | XP_016860827.1:n.1393-67C>A | |
| NM_001287489.2:c.1393-67C>A | NP_001274418.1:n.1393-67C>A | |
| NM_194248.3:c.1393-67C>A MANE Select | NP_919224.1:n.1393-67C>A |