Linked Data
gnomAD v4:
11-72243851-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243851G>T , CM000673.2:g.72243851G>T | GRCh38 |
| NC_000011.9:g.71954895G>T , CM000673.1:g.71954895G>T | GRCh37 |
| NC_000011.8:g.71632543G>T | NCBI36 |
| NG_008169.1:g.5326C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.154C>A MANE Select | ENSP00000298231.5:p.Leu52Ile | |
| ENST00000544057.1:n.85+1729C>A | ||
| NM_005169.3:c.154C>A | NP_005160.2:p.Leu52Ile | |
| NM_005169.4:c.154C>A MANE Select | NP_005160.2:p.Leu52Ile |