Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36172140C>T , CM000669.2:g.36172140C>T | GRCh38 |
| NC_000007.13:g.36211749C>T , CM000669.1:g.36211749C>T | GRCh37 |
| NC_000007.12:g.36178274C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242108.9:c.878+16938C>T MANE Select | ENSP00000242108.4:n.878+16938C>T | |
| ENST00000242108.8:c.878+16938C>T | ENSP00000242108.4:n.878+16938C>T | |
| ENST00000534978.1:c.878+16938C>T | ENSP00000442692.1:n.878+16938C>T | |
| NM_030636.2:c.878+16938C>T | NP_085139.2:n.878+16938C>T | |
| XM_017012657.2:c.878+16938C>T | XP_016868146.1:n.878+16938C>T | |
| XM_017012658.2:c.878+16938C>T | XP_016868147.1:n.878+16938C>T | |
| NM_030636.3:c.878+16938C>T MANE Select | NP_085139.2:n.878+16938C>T |