Linked Data
gnomAD v4:
10-94989109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989109T>C , CM000672.2:g.94989109T>C | GRCh38 |
| NC_000010.10:g.96748866T>C , CM000672.1:g.96748866T>C | GRCh37 |
| NC_000010.9:g.96738856T>C | NCBI36 |
| NG_008385.1:g.55452T>C | |
| NG_008385.2:g.55952T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*81T>C MANE Select | ENSP00000260682.6:n.*81T>C | |
| ENST00000643112.1:c.*563T>C | ENSP00000496202.1:n.*563T>C | |
| ENST00000260682.6:c.*81T>C | ENSP00000260682.6:n.*81T>C | |
| NM_000771.3:c.*81T>C | NP_000762.2:n.*81T>C | |
| NM_000771.4:c.*81T>C MANE Select | NP_000762.2:n.*81T>C |