Linked Data
dbSNP Id:
rs3741414
gnomAD v2:
12-57844049-C-T
gnomAD v3:
12-57450266-C-T
gnomAD v4:
12-57450266-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450266C>T , CM000674.2:g.57450266C>T | GRCh38 |
| NC_000012.11:g.57844049C>T , CM000674.1:g.57844049C>T | GRCh37 |
| NC_000012.10:g.56130316C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309668.3:c.*244C>T MANE Select | ENSP00000308716.2:n.*244C>T | |
| ENST00000309668.2:c.*244C>T | ENSP00000308716.2:n.*244C>T | |
| NM_005538.3:c.*244C>T | NP_005529.1:n.*244C>T | |
| NM_005538.4:c.*244C>T MANE Select | NP_005529.1:n.*244C>T |