Linked Data
dbSNP Id:
rs768028308
ExAC:
20:741657 G / A
gnomAD v2:
20-741657-G-A
gnomAD v3:
20-761013-G-A
gnomAD v4:
20-761013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.761013G>A , CM000682.2:g.761013G>A | GRCh38 |
| NC_000020.10:g.741657G>A , CM000682.1:g.741657G>A | GRCh37 |
| NC_000020.9:g.689657G>A | NCBI36 |
| NG_027687.1:g.12572C>T | |
| NG_027687.2:g.19973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.*637C>T | ENSP00000371370.3:n.*637C>T | |
| ENST00000473664.2:c.917C>T | ENSP00000502741.1:p.Thr306Ile | |
| ENST00000488495.3:c.*13C>T | ENSP00000494009.1:n.*13C>T | |
| ENST00000645534.1:c.*13C>T MANE Select | ENSP00000494193.1:n.*13C>T | |
| ENST00000217254.11:c.*13C>T | ENSP00000217254.7:n.*13C>T | |
| ENST00000381944.4:c.*637C>T | ENSP00000371370.3:n.*637C>T | |
| ENST00000632431.1:c.*13C>T | ENSP00000488723.1:n.*13C>T | |
| NM_033409.3:c.*13C>T | NP_212134.3:n.*13C>T | |
| XM_005260655.3:c.*13C>T | XP_005260712.1:n.*13C>T | |
| XM_011529148.1:c.*13C>T | XP_011527450.1:n.*13C>T | |
| XM_005260655.4:c.*13C>T | XP_005260712.1:n.*13C>T | |
| XM_024451821.1:c.*13C>T | XP_024307589.1:n.*13C>T | |
| NM_033409.4:c.*13C>T MANE Select | NP_212134.3:n.*13C>T | |
| NM_001370085.1:c.*13C>T | NP_001357014.1:n.*13C>T | |
| NM_001370086.1:c.*13C>T | NP_001357015.1:n.*13C>T |