Linked Data
ClinVar Variation Id:
342396
ClinVar RCV Id:
RCV002504149
dbSNP Id:
rs886057698
gnomAD v2:
3-10183325-C-T
gnomAD v3:
3-10141641-C-T
gnomAD v4:
3-10141641-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141641C>T , CM000665.2:g.10141641C>T | GRCh38 |
| NC_000003.11:g.10183325C>T , CM000665.1:g.10183325C>T | GRCh37 |
| NC_000003.10:g.10158325C>T | NCBI36 |
| NG_008212.3:g.5007C>T , LRG_322:g.5007C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256474.2:c.-207C>T | ENSP00000256474.2:n.-207C>T | |
| NM_000551.3:c.-207C>T , LRG_322t1:c.-207C>T | NP_000542.1:n.-207C>T | |
| NM_198156.2:c.-207C>T | NP_937799.1:n.-207C>T | |
| NM_001354723.1:c.-207C>T | NP_001341652.1:n.-207C>T |