Linked Data
gnomAD v4:
2-218270453-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218270453A>G , CM000664.2:g.218270453A>G | GRCh38 |
| NC_000002.11:g.219135176A>G , CM000664.1:g.219135176A>G | GRCh37 |
| NC_000002.10:g.218843420A>G | NCBI36 |
| NG_017060.1:g.5062A>G | |
| NG_033036.1:g.4718T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691799.1:n.70+733A>G | ||
| ENST00000248451.7:c.-83A>G | ENSP00000248451.3:n.-83A>G | |
| NM_001077399.2:c.-83A>G | NP_001070867.1:n.-83A>G | |
| NM_015488.4:c.-83A>G | NP_056303.3:n.-83A>G |