Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101210566G>A , CM000669.2:g.101210566G>A | GRCh38 |
| NC_000007.13:g.100853847G>A , CM000669.1:g.100853847G>A | GRCh37 |
| NC_000007.12:g.100640567G>A | NCBI36 |
| NG_012148.1:g.12165C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001084.5:c.1466C>T MANE Select | NP_001075.1:p.Pro489Leu |
| ENST00000223127.8:c.1466C>T MANE Select | ENSP00000223127.3:p.Pro489Leu |
| NM_001084.4:c.1466C>T | NP_001075.1:p.Pro489Leu |
| ENST00000223127.7:c.1466C>T | ENSP00000223127.3:p.Pro489Leu |
| ENST00000440925.1:c.354C>T | |
| ENST00000454310.5:c.190C>T | |
| ENST00000460132.5:n.90C>T | |
| ENST00000466881.1:n.538C>T |