Linked Data
ClinVar Variation Id:
536723
ClinVar RCV Id:
RCV000645343
dbSNP Id:
rs778769534
ExAC:
10:75802831 C / G
gnomAD v2:
10-75802831-C-G
gnomAD v3:
10-74043073-C-G
gnomAD v4:
10-74043073-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74043073C>G , CM000672.2:g.74043073C>G | GRCh38 |
| NC_000010.10:g.75802831C>G , CM000672.1:g.75802831C>G | GRCh37 |
| NC_000010.9:g.75472837C>G | NCBI36 |
| NG_008868.1:g.49960C>G , LRG_383:g.49960C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.169-10C>G MANE Select | ENSP00000211998.5:n.169-10C>G | |
| ENST00000211998.8:c.169-10C>G | ENSP00000211998.4:n.169-10C>G | |
| ENST00000372755.7:c.169-10C>G | ENSP00000361841.3:n.169-10C>G | |
| ENST00000478896.2:n.261-10C>G | ||
| ENST00000623461.3:n.127-10C>G | ||
| ENST00000624354.3:c.169-27597C>G | ENSP00000485551.1:n.169-27597C>G | |
| NM_003373.3:c.169-10C>G | NP_003364.1:n.169-10C>G | |
| NM_014000.2:c.169-10C>G , LRG_383t1:c.169-10C>G | NP_054706.1:n.169-10C>G | |
| XM_005270142.1:c.169-10C>G | XP_005270199.1:n.169-10C>G | |
| XM_005270143.1:c.169-10C>G | XP_005270200.1:n.169-10C>G | |
| NM_003373.4:c.169-10C>G | NP_003364.1:n.169-10C>G | |
| NM_014000.3:c.169-10C>G MANE Select | NP_054706.1:n.169-10C>G |