Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86142996C>T , CM000670.2:g.86142996C>T | GRCh38 |
| NC_000008.10:g.87155225C>T , CM000670.1:g.87155225C>T | GRCh37 |
| NC_000008.9:g.87224341C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285393.4:c.639+42C>T MANE Select | ENSP00000285393.3:n.639+42C>T | |
| ENST00000285393.3:c.639+42C>T | ENSP00000285393.3:n.639+42C>T | |
| NM_152565.1:c.639+42C>T MANE Select | NP_689778.1:n.639+42C>T | |
| XM_011516955.1:c.369+42C>T | XP_011515257.1:n.369+42C>T |