Linked Data
gnomAD v4:
2-218270449-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218270449A>T , CM000664.2:g.218270449A>T | GRCh38 |
| NC_000002.11:g.219135172A>T , CM000664.1:g.219135172A>T | GRCh37 |
| NC_000002.10:g.218843416A>T | NCBI36 |
| NG_017060.1:g.5058A>T | |
| NG_033036.1:g.4722T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691799.1:n.70+729A>T | ||
| ENST00000248451.7:c.-87A>T | ENSP00000248451.3:n.-87A>T | |
| NM_001077399.2:c.-87A>T | NP_001070867.1:n.-87A>T | |
| NM_015488.4:c.-87A>T | NP_056303.3:n.-87A>T |