Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333239G>T , CM000667.2:g.140333239G>T | GRCh38 |
| NC_000005.9:g.139712824G>T , CM000667.1:g.139712824G>T | GRCh37 |
| NC_000005.8:g.139693008G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*1060C>A MANE Select | ENSP00000230990.6:n.*1060C>A | |
| ENST00000230990.6:c.*1060C>A | ENSP00000230990.6:n.*1060C>A | |
| NM_001945.2:c.*1060C>A | NP_001936.1:n.*1060C>A | |
| NM_001945.3:c.*1060C>A MANE Select | NP_001936.1:n.*1060C>A |