Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220143109C>T , CM000663.2:g.220143109C>T | GRCh38 |
| NC_000001.10:g.220316451C>T , CM000663.1:g.220316451C>T | GRCh37 |
| NC_000001.9:g.218383074C>T | NCBI36 |
| NG_041799.1:g.53997C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018060.4:c.2726C>T MANE Select | NP_060530.3:p.Pro909Leu |
| ENST00000366922.3:c.2726C>T MANE Select | ENSP00000355889.2:p.Pro909Leu |
| NM_018060.3:c.2726C>T | NP_060530.3:p.Pro909Leu |
| ENST00000366922.2:c.2726C>T | ENSP00000355889.2:p.Pro909Leu |
| ENST00000467924.1:n.421C>T |