Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989215T>C , CM000672.2:g.94989215T>C | GRCh38 |
| NC_000010.10:g.96748972T>C , CM000672.1:g.96748972T>C | GRCh37 |
| NC_000010.9:g.96738962T>C | NCBI36 |
| NG_008385.1:g.55558T>C | |
| NG_008385.2:g.56058T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*187T>C MANE Select | ENSP00000260682.6:n.*187T>C | |
| ENST00000643112.1:c.*669T>C | ENSP00000496202.1:n.*669T>C | |
| ENST00000260682.6:c.*187T>C | ENSP00000260682.6:n.*187T>C | |
| NM_000771.3:c.*187T>C | NP_000762.2:n.*187T>C | |
| NM_000771.4:c.*187T>C MANE Select | NP_000762.2:n.*187T>C |