Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1229052C>T , CM000667.2:g.1229052C>T | GRCh38 |
| NC_000005.9:g.1229167C>T , CM000667.1:g.1229167C>T | GRCh37 |
| NC_000005.8:g.1282167C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182632.3:c.161-3167C>T MANE Select | NP_872438.2:n.161-3167C>T |
| ENST00000324642.4:c.161-3167C>T MANE Select | ENSP00000323549.3:n.161-3167C>T |
| NM_182632.2:c.161-3167C>T | NP_872438.2:n.161-3167C>T |
| ENST00000324642.3:c.161-3167C>T | ENSP00000323549.3:n.161-3167C>T |
| ENST00000513607.2:n.230-3167C>T |