Linked Data
ClinVar Variation Id:
311402
ClinVar RCV Id:
RCV000403600
dbSNP Id:
rs549054241
gnomAD v2:
13-22245256-C-T
gnomAD v3:
13-21671117-C-T
gnomAD v4:
13-21671117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21671117C>T , CM000675.2:g.21671117C>T | GRCh38 |
| NC_000013.10:g.22245256C>T , CM000675.1:g.22245256C>T | GRCh37 |
| NC_000013.9:g.21143256C>T | NCBI36 |
| NG_016272.1:g.5042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.-796C>T MANE Select | ENSP00000371790.5:n.-796C>T | |
| NM_002010.2:c.-796C>T | NP_002001.1:n.-796C>T | |
| NM_002010.3:c.-796C>T MANE Select | NP_002001.1:n.-796C>T |