Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44107469C>T , CM000669.2:g.44107469C>T | GRCh38 |
| NC_000007.13:g.44147068C>T , CM000669.1:g.44147068C>T | GRCh37 |
| NC_000007.12:g.44113593C>T | NCBI36 |
| NG_056775.1:g.8150C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.626C>T MANE Select | NP_001120.3:p.Pro209Leu |
| ENST00000223357.8:c.626C>T MANE Select | ENSP00000223357.3:p.Pro209Leu |
| NM_001129.4:c.626C>T | NP_001120.3:p.Pro209Leu |
| ENST00000223357.7:c.626C>T | ENSP00000223357.3:p.Pro209Leu |
| ENST00000449162.1:c.374C>T | ENSP00000401758.1:p.Pro125Leu |
| ENST00000455443.5:c.498C>T | |
| XM_011515162.1:c.626C>T | XP_011513464.1:p.Pro209Leu |