Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852914A>T , CM000672.2:g.94852914A>T | GRCh38 |
| NC_000010.10:g.96612671A>T , CM000672.1:g.96612671A>T | GRCh37 |
| NC_000010.9:g.96602661A>T | NCBI36 |
| NG_008384.2:g.95209A>T | |
| NG_008384.3:g.95234A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.1473A>T MANE Select | NP_000760.1:p.Ter491Cys |
| ENST00000371321.9:c.1473A>T MANE Select | ENSP00000360372.3:p.Ter491Cys |
| NM_000769.2:c.1473A>T | NP_000760.1:p.Ter491Cys |
| ENST00000371321.7:c.1473A>T | ENSP00000360372.3:p.Ter491Cys |
| ENST00000464755.1:c.2236A>T | ENSP00000483243.1:n.2236A>T |
| ENST00000645461.1:n.2384A>T |