Linked Data
gnomAD v4:
12-57450168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450168T>C , CM000674.2:g.57450168T>C | GRCh38 |
| NC_000012.11:g.57843951T>C , CM000674.1:g.57843951T>C | GRCh37 |
| NC_000012.10:g.56130218T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*146T>C MANE Select | ENSP00000308716.2:n.*146T>C | |
| ENST00000309668.2:c.*146T>C | ENSP00000308716.2:n.*146T>C | |
| NM_005538.3:c.*146T>C | NP_005529.1:n.*146T>C | |
| NM_005538.4:c.*146T>C MANE Select | NP_005529.1:n.*146T>C |