Linked Data
gnomAD v4:
1-1535615-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535615C>A , CM000663.2:g.1535615C>A | GRCh38 |
| NC_000001.10:g.1470995C>A , CM000663.1:g.1470995C>A | GRCh37 |
| NC_000001.9:g.1460858C>A | NCBI36 |
| NG_041807.1:g.9746G>T | |
| NG_053035.1:g.28473C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.347G>T MANE Select | ENSP00000368007.4:p.Arg116Leu | |
| ENST00000378733.8:c.347G>T | ENSP00000368007.4:p.Arg116Leu | |
| ENST00000425828.1:c.347G>T | ENSP00000400311.1:p.Arg116Leu | |
| NM_001114748.1:c.347G>T | NP_001108220.1:p.Arg116Leu | |
| NM_001114748.2:c.347G>T MANE Select | NP_001108220.1:p.Arg116Leu |