Linked Data
gnomAD v4:
10-94988858-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988858T>C , CM000672.2:g.94988858T>C | GRCh38 |
| NC_000010.10:g.96748615T>C , CM000672.1:g.96748615T>C | GRCh37 |
| NC_000010.9:g.96738605T>C | NCBI36 |
| NG_008385.1:g.55201T>C | |
| NG_008385.2:g.55701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1303T>C MANE Select | ENSP00000260682.6:p.Cys435Arg | |
| ENST00000643112.1:c.*312T>C | ENSP00000496202.1:n.*312T>C | |
| ENST00000260682.6:c.1303T>C | ENSP00000260682.6:p.Cys435Arg | |
| NM_000771.3:c.1303T>C | NP_000762.2:p.Cys435Arg | |
| NM_000771.4:c.1303T>C MANE Select | NP_000762.2:p.Cys435Arg |