Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949229T= , CM000672.2:g.94949229T= | GRCh38 |
| NC_000010.10:g.96708986T= , CM000672.1:g.96708986T= | GRCh37 |
| NC_000010.9:g.96698976T= | NCBI36 |
| NG_008385.1:g.15572T= | |
| NG_008385.2:g.16072T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.764T= MANE Select | ENSP00000260682.6:p.Met255= | |
| ENST00000643112.1:c.764T= | ENSP00000496202.1:p.Met255= | |
| ENST00000260682.6:c.764T= | ENSP00000260682.6:p.Met255= | |
| ENST00000473496.1:n.535T= | ||
| NM_000771.3:c.764T= | NP_000762.2:p.Met255= | |
| NM_000771.4:c.764T= MANE Select | NP_000762.2:p.Met255= |