Linked Data
gnomAD v4:
10-94989057-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989057T>G , CM000672.2:g.94989057T>G | GRCh38 |
| NC_000010.10:g.96748814T>G , CM000672.1:g.96748814T>G | GRCh37 |
| NC_000010.9:g.96738804T>G | NCBI36 |
| NG_008385.1:g.55400T>G | |
| NG_008385.2:g.55900T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*29T>G MANE Select | ENSP00000260682.6:n.*29T>G | |
| ENST00000643112.1:c.*511T>G | ENSP00000496202.1:n.*511T>G | |
| ENST00000260682.6:c.*29T>G | ENSP00000260682.6:n.*29T>G | |
| NM_000771.3:c.*29T>G | NP_000762.2:n.*29T>G | |
| NM_000771.4:c.*29T>G MANE Select | NP_000762.2:n.*29T>G |