Linked Data
gnomAD v4:
12-65964542-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65964542T>C , CM000674.2:g.65964542T>C | GRCh38 |
| NC_000012.11:g.66358322T>C , CM000674.1:g.66358322T>C | GRCh37 |
| NC_000012.10:g.64644589T>C | NCBI36 |
| NG_016296.1:g.145083T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.*1250T>C MANE Select | ENSP00000384026.2:n.*1250T>C | |
| ENST00000403681.6:c.*1250T>C | ENSP00000384026.2:n.*1250T>C | |
| NM_003483.4:c.*1250T>C | NP_003474.1:n.*1250T>C | |
| NM_003483.6:c.*1250T>C MANE Select | NP_003474.1:n.*1250T>C |