Linked Data
gnomAD v4:
4-68646781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646781G>A , CM000666.2:g.68646781G>A | GRCh38 |
| NC_000004.11:g.69512499G>A , CM000666.1:g.69512499G>A | GRCh37 |
| NC_000004.10:g.69195094G>A | NCBI36 |
| NG_052676.1:g.28996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*323C>T MANE Select | ENSP00000341045.5:n.*323C>T | |
| ENST00000338206.5:c.*323C>T | ENSP00000341045.5:n.*323C>T | |
| ENST00000616841.4:c.1732+184C>T | ENSP00000482004.1:n.1732+184C>T | |
| NM_001076.3:c.*323C>T | NP_001067.2:n.*323C>T | |
| NM_001076.4:c.*323C>T MANE Select | NP_001067.2:n.*323C>T |