Linked Data
ClinVar Variation Id:
338553
dbSNP Id:
rs3918254
ExAC:
20:44640391 C / T
gnomAD v2:
20-44640391-C-T
gnomAD v3:
20-46011752-C-T
gnomAD v4:
20-46011752-C-T
COSMIC:
COSM3681196
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011752C>T , CM000682.2:g.46011752C>T | GRCh38 |
| NC_000020.10:g.44640391C>T , CM000682.1:g.44640391C>T | GRCh37 |
| NC_000020.9:g.44073798C>T | NCBI36 |
| NG_011468.1:g.7845C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.997+5C>T MANE Select | ENSP00000361405.3:n.997+5C>T | |
| NM_004994.2:c.997+5C>T | NP_004985.2:n.997+5C>T | |
| NM_004994.3:c.997+5C>T MANE Select | NP_004985.2:n.997+5C>T |