Linked Data
ClinVar Variation Id:
162171
ClinVar RCV Id:
RCV000190308
dbSNP Id:
rs3750847
gnomAD v2:
10-124215421-C-T
gnomAD v3:
10-122455905-C-T
gnomAD v4:
10-122455905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122455905C>T , CM000672.2:g.122455905C>T | GRCh38 |
| NC_000010.10:g.124215421C>T , CM000672.1:g.124215421C>T | GRCh37 |
| NC_000010.9:g.124205411C>T | NCBI36 |
| NG_011725.1:g.6243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528446.1:c.297+881C>T MANE Select | ENSP00000436682.1:n.297+881C>T | |
| NM_001099667.1:c.297+881C>T | NP_001093137.1:n.297+881C>T | |
| XR_946382.1:n.1827+2590G>A | ||
| XR_946383.1:n.1827+2590G>A | ||
| XR_946384.1:n.1576+2590G>A | ||
| XR_946385.1:n.1828-884G>A | ||
| NM_001099667.2:c.297+881C>T | NP_001093137.1:n.297+881C>T | |
| XR_946382.2:n.1855+2590G>A | ||
| XR_946383.2:n.1855+2590G>A | ||
| XR_946384.2:n.1580+2590G>A | ||
| XR_946385.2:n.1856-884G>A | ||
| NM_001099667.3:c.297+881C>T MANE Select | NP_001093137.1:n.297+881C>T |