Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333490C>A , CM000667.2:g.140333490C>A | GRCh38 |
| NC_000005.9:g.139713075C>A , CM000667.1:g.139713075C>A | GRCh37 |
| NC_000005.8:g.139693259C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*809G>T MANE Select | ENSP00000230990.6:n.*809G>T | |
| ENST00000230990.6:c.*809G>T | ENSP00000230990.6:n.*809G>T | |
| NM_001945.2:c.*809G>T | NP_001936.1:n.*809G>T | |
| NM_001945.3:c.*809G>T MANE Select | NP_001936.1:n.*809G>T |