Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41262200G>T , CM000670.2:g.41262200G>T | GRCh38 |
| NC_000008.10:g.41119719G>T , CM000670.1:g.41119719G>T | GRCh37 |
| NC_000008.9:g.41238876G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220772.8:c.*2967C>A MANE Select | ENSP00000220772.3:n.*2967C>A | |
| ENST00000220772.7:c.*2967C>A | ENSP00000220772.3:n.*2967C>A | |
| ENST00000379845.3:c.*2967C>A | ENSP00000369174.3:n.*2967C>A | |
| NM_003012.4:c.*2967C>A | NP_003003.3:n.*2967C>A | |
| NM_003012.5:c.*2967C>A MANE Select | NP_003003.3:n.*2967C>A |