Linked Data
gnomAD v4:
11-64753542-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753542G>T , CM000673.2:g.64753542G>T | GRCh38 |
| NC_000011.9:g.64521014G>T , CM000673.1:g.64521014G>T | GRCh37 |
| NC_000011.8:g.64277590G>T | NCBI36 |
| NG_013018.1:g.12174C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1380C>A MANE Select | ENSP00000164139.3:p.His460Gln | |
| ENST00000164139.3:c.1380C>A | ENSP00000164139.3:p.His460Gln | |
| ENST00000377432.7:c.1116C>A | ENSP00000366650.3:p.His372Gln | |
| NM_001164716.1:c.1116C>A | NP_001158188.1:p.His372Gln | |
| NM_005609.2:c.1380C>A | NP_005600.1:p.His460Gln | |
| NM_005609.3:c.1380C>A | NP_005600.1:p.His460Gln | |
| NM_005609.4:c.1380C>A MANE Select | NP_005600.1:p.His460Gln |