Linked Data
gnomAD v4:
4-68646770-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646770A>C , CM000666.2:g.68646770A>C | GRCh38 |
| NC_000004.11:g.69512488A>C , CM000666.1:g.69512488A>C | GRCh37 |
| NC_000004.10:g.69195083A>C | NCBI36 |
| NG_052676.1:g.29007T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*334T>G MANE Select | ENSP00000341045.5:n.*334T>G | |
| ENST00000338206.5:c.*334T>G | ENSP00000341045.5:n.*334T>G | |
| ENST00000616841.4:c.1732+195T>G | ENSP00000482004.1:n.1732+195T>G | |
| NM_001076.3:c.*334T>G | NP_001067.2:n.*334T>G | |
| NM_001076.4:c.*334T>G MANE Select | NP_001067.2:n.*334T>G |