Linked Data
ClinVar Variation Id:
799852
ClinVar RCV Id:
RCV000983471
dbSNP Id:
rs1475483463
gnomAD v2:
20-44640235-T-C
gnomAD v4:
20-46011596-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011596T>C , CM000682.2:g.46011596T>C | GRCh38 |
| NC_000020.10:g.44640235T>C , CM000682.1:g.44640235T>C | GRCh37 |
| NC_000020.9:g.44073642T>C | NCBI36 |
| NG_011468.1:g.7689T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.846T>C MANE Select | ENSP00000361405.3:p.Asn282= | |
| NM_004994.2:c.846T>C | NP_004985.2:p.Asn282= | |
| NM_004994.3:c.846T>C MANE Select | NP_004985.2:p.Asn282= |