Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333293G>A , CM000667.2:g.140333293G>A | GRCh38 |
| NC_000005.9:g.139712878G>A , CM000667.1:g.139712878G>A | GRCh37 |
| NC_000005.8:g.139693062G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001945.3:c.*1006C>T MANE Select | NP_001936.1:n.*1006C>T |
| ENST00000230990.7:c.*1006C>T MANE Select | ENSP00000230990.6:n.*1006C>T |
| NM_001945.2:c.*1006C>T | NP_001936.1:n.*1006C>T |
| ENST00000230990.6:c.*1006C>T | ENSP00000230990.6:n.*1006C>T |