Linked Data
gnomAD v4:
10-94989111-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989111T>A , CM000672.2:g.94989111T>A | GRCh38 |
| NC_000010.10:g.96748868T>A , CM000672.1:g.96748868T>A | GRCh37 |
| NC_000010.9:g.96738858T>A | NCBI36 |
| NG_008385.1:g.55454T>A | |
| NG_008385.2:g.55954T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*83T>A MANE Select | ENSP00000260682.6:n.*83T>A | |
| ENST00000643112.1:c.*565T>A | ENSP00000496202.1:n.*565T>A | |
| ENST00000260682.6:c.*83T>A | ENSP00000260682.6:n.*83T>A | |
| NM_000771.3:c.*83T>A | NP_000762.2:n.*83T>A | |
| NM_000771.4:c.*83T>A MANE Select | NP_000762.2:n.*83T>A |