Linked Data
ClinVar Variation Id:
356438
ClinVar RCV Id:
RCV000393259
dbSNP Id:
rs374493565
gnomAD v2:
6-35420223-C-T
gnomAD v3:
6-35452446-C-T
gnomAD v4:
6-35452446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35452446C>T , CM000668.2:g.35452446C>T | GRCh38 |
| NC_000006.11:g.35420223C>T , CM000668.1:g.35420223C>T | GRCh37 |
| NC_000006.10:g.35528201C>T | NCBI36 |
| NG_011708.1:g.5086C>T , LRG_498:g.5086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229769.3:c.-100C>T MANE Select | ENSP00000229769.2:n.-100C>T | |
| ENST00000648059.1:c.-100C>T | ENSP00000497902.1:n.-100C>T | |
| ENST00000229769.2:c.-100C>T | ENSP00000229769.2:n.-100C>T | |
| NM_021922.2:c.-100C>T , LRG_498t1:c.-100C>T | NP_068741.1:n.-100C>T | |
| XM_005248885.2:c.-100C>T | XP_005248942.1:n.-100C>T | |
| XM_005248886.2:c.-100C>T | XP_005248943.1:n.-100C>T | |
| XM_005248887.2:c.-100C>T | XP_005248944.1:n.-100C>T | |
| XM_005248888.2:c.-100C>T | XP_005248945.1:n.-100C>T | |
| XM_005248888.3:c.-100C>T | XP_005248945.1:n.-100C>T | |
| XR_001743226.1:n.108C>T | ||
| XR_002956267.1:n.108C>T | ||
| NM_021922.3:c.-100C>T MANE Select | NP_068741.1:n.-100C>T |