Linked Data
gnomAD v4:
4-68646761-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646761T>G , CM000666.2:g.68646761T>G | GRCh38 |
| NC_000004.11:g.69512479T>G , CM000666.1:g.69512479T>G | GRCh37 |
| NC_000004.10:g.69195074T>G | NCBI36 |
| NG_052676.1:g.29016A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*343A>C MANE Select | ENSP00000341045.5:n.*343A>C | |
| ENST00000338206.5:c.*343A>C | ENSP00000341045.5:n.*343A>C | |
| ENST00000616841.4:c.1732+204A>C | ENSP00000482004.1:n.1732+204A>C | |
| NM_001076.3:c.*343A>C | NP_001067.2:n.*343A>C | |
| NM_001076.4:c.*343A>C MANE Select | NP_001067.2:n.*343A>C |