Linked Data
gnomAD v4:
1-53196600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196600A>G , CM000663.2:g.53196600A>G | GRCh38 |
| NC_000001.10:g.53662272A>G , CM000663.1:g.53662272A>G | GRCh37 |
| NC_000001.9:g.53434860A>G | NCBI36 |
| NG_008035.1:g.5172A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-344A>G | ENSP00000360541.3:n.-344A>G | |
| NM_000098.2:c.-344A>G | NP_000089.1:n.-344A>G | |
| NM_001330589.1:c.-344A>G | NP_001317518.1:n.-344A>G |