Linked Data
gnomAD v4:
11-72189656-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72189656G>T , CM000673.2:g.72189656G>T | GRCh38 |
| NC_000011.9:g.71900700G>T , CM000673.1:g.71900700G>T | GRCh37 |
| NC_000011.8:g.71578348G>T | NCBI36 |
| NG_015863.1:g.5099G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.-112G>T | ENSP00000308137.4:n.-112G>T | |
| ENST00000312293.8:c.-112G>T | ENSP00000308137.4:n.-112G>T | |
| NM_016724.2:c.-178G>T | NP_057936.1:n.-178G>T | |
| NM_016725.2:c.-112G>T | NP_057937.1:n.-112G>T |