Linked Data
ClinVar Variation Id:
347912
ClinVar RCV Id:
RCV000280353
dbSNP Id:
rs3822159
gnomAD v2:
4-157997410-C-T
gnomAD v3:
4-157076258-C-T
gnomAD v4:
4-157076258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157076258C>T , CM000666.2:g.157076258C>T | GRCh38 |
| NC_000004.11:g.157997410C>T , CM000666.1:g.157997410C>T | GRCh37 |
| NC_000004.10:g.158216860C>T | NCBI36 |
| NG_015823.1:g.5134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264428.9:c.-69C>T MANE Select | ENSP00000264428.4:n.-69C>T | |
| ENST00000264428.8:c.-69C>T | ENSP00000264428.4:n.-69C>T | |
| ENST00000506411.5:c.-69C>T | ENSP00000422039.1:n.-69C>T | |
| ENST00000512619.5:c.-69C>T | ENSP00000425433.1:n.-69C>T | |
| ENST00000515642.5:c.-69C>T | ENSP00000421044.1:n.-69C>T | |
| ENST00000541722.5:c.-69C>T | ENSP00000441873.1:n.-69C>T | |
| NM_000824.4:c.-69C>T | NP_000815.1:n.-69C>T | |
| NM_001166061.1:c.-69C>T | NP_001159533.1:n.-69C>T | |
| XM_011531876.1:c.-424C>T | XP_011530178.1:n.-424C>T | |
| XR_001741207.2:n.113C>T | ||
| XR_002959723.1:n.113C>T | ||
| NM_000824.5:c.-69C>T MANE Select | NP_000815.1:n.-69C>T | |
| NM_001166061.2:c.-69C>T | NP_001159533.1:n.-69C>T |