Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70441552G>A , CM000672.2:g.70441552G>A | GRCh38 |
| NC_000010.10:g.72201308G>A , CM000672.1:g.72201308G>A | GRCh37 |
| NC_000010.9:g.71871314G>A | NCBI36 |
| NG_012448.1:g.5158C>T | |
| NG_012448.2:g.11397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287139.8:c.116C>T MANE Select | ENSP00000287139.3:p.Ser39Phe | |
| ENST00000287139.7:c.116C>T | ENSP00000287139.3:p.Ser39Phe | |
| ENST00000414871.1:c.29-5569C>T | ENSP00000394468.1:n.29-5569C>T | |
| NM_018055.4:c.116C>T | NP_060525.3:p.Ser39Phe | |
| NM_001329906.1:c.-206-5569C>T | NP_001316835.1:n.-206-5569C>T | |
| XM_024448028.1:c.-207+479C>T | XP_024303796.1:n.-207+479C>T | |
| NM_018055.5:c.116C>T MANE Select | NP_060525.3:p.Ser39Phe | |
| NM_001329906.2:c.-206-5569C>T | NP_001316835.1:n.-206-5569C>T |