Linked Data
gnomAD v4:
11-72189665-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72189665G>T , CM000673.2:g.72189665G>T | GRCh38 |
| NC_000011.9:g.71900709G>T , CM000673.1:g.71900709G>T | GRCh37 |
| NC_000011.8:g.71578357G>T | NCBI36 |
| NG_015863.1:g.5108G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.-103G>T | ENSP00000308137.4:n.-103G>T | |
| ENST00000312293.8:c.-103G>T | ENSP00000308137.4:n.-103G>T | |
| NM_016724.2:c.-169G>T | NP_057936.1:n.-169G>T | |
| NM_016725.2:c.-103G>T | NP_057937.1:n.-103G>T |