Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116748283G= , CM000673.2:g.116748283G= | GRCh38 |
| NC_000011.9:g.116618999G= , CM000673.1:g.116618999G= | GRCh37 |
| NC_000011.8:g.116124209G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.*199C= MANE Select | ENSP00000260210.3:n.*199C= | |
| ENST00000260210.4:c.*199C= | ENSP00000260210.3:n.*199C= | |
| ENST00000375445.7:c.*199C= | ENSP00000364594.3:n.*199C= | |
| ENST00000419189.1:c.834C= | ||
| NM_001159736.1:c.*199C= | NP_001153208.1:n.*199C= | |
| NM_032725.3:c.*199C= | NP_116114.1:n.*199C= | |
| XM_011543035.1:c.*199C= | XP_011541337.1:n.*199C= | |
| XM_011543035.2:c.*199C= | XP_011541337.1:n.*199C= | |
| NM_032725.4:c.*199C= MANE Select | NP_116114.1:n.*199C= | |
| NM_001159736.2:c.*199C= | NP_001153208.1:n.*199C= |