Linked Data
gnomAD v4:
4-40354592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354592A>G , CM000666.2:g.40354592A>G | GRCh38 |
| NC_000004.11:g.40356609A>G , CM000666.1:g.40356609A>G | GRCh37 |
| NC_000004.10:g.40051366A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.*72A>G MANE Select | ENSP00000312663.2:n.*72A>G | |
| ENST00000310169.2:c.*72A>G | ENSP00000312663.2:n.*72A>G | |
| NM_017581.3:c.*72A>G | NP_060051.2:n.*72A>G | |
| NM_017581.4:c.*72A>G MANE Select | NP_060051.2:n.*72A>G |