Linked Data
dbSNP Id:
rs779767160
ExAC:
20:44640397 C / T
gnomAD v2:
20-44640397-C-T
gnomAD v3:
20-46011758-C-T
gnomAD v4:
20-46011758-C-T
MyVariant Identifiers:
chr20:g.44640397C>T (hg19)
chr20:g.44640397_44640401delinsTCTGT (hg19)
chr20:g.46011758C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011758C>T , CM000682.2:g.46011758C>T | GRCh38 |
| NC_000020.10:g.44640397C>T , CM000682.1:g.44640397C>T | GRCh37 |
| NC_000020.9:g.44073804C>T | NCBI36 |
| NG_011468.1:g.7851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.997+11C>T MANE Select | ENSP00000361405.3:n.997+11C>T | |
| NM_004994.2:c.997+11C>T | NP_004985.2:n.997+11C>T | |
| NM_004994.3:c.997+11C>T MANE Select | NP_004985.2:n.997+11C>T |