Linked Data
ClinVar Variation Id:
311404
ClinVar RCV Id:
RCV000356691
dbSNP Id:
rs531745333
gnomAD v2:
13-22245326-C-T
gnomAD v3:
13-21671187-C-T
gnomAD v4:
13-21671187-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21671187C>T , CM000675.2:g.21671187C>T | GRCh38 |
| NC_000013.10:g.22245326C>T , CM000675.1:g.22245326C>T | GRCh37 |
| NC_000013.9:g.21143326C>T | NCBI36 |
| NG_016272.1:g.5112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.-726C>T MANE Select | ENSP00000371790.5:n.-726C>T | |
| NM_002010.2:c.-726C>T | NP_002001.1:n.-726C>T | |
| NM_002010.3:c.-726C>T MANE Select | NP_002001.1:n.-726C>T |