Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435307C>A , CM000672.2:g.70435307C>A | GRCh38 |
| NC_000010.10:g.72195063C>A , CM000672.1:g.72195063C>A | GRCh37 |
| NC_000010.9:g.71865069C>A | NCBI36 |
| NG_012448.1:g.11403G>T | |
| NG_012448.2:g.17642G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018055.5:c.870G>T MANE Select | NP_060525.3:p.Pro290= |
| ENST00000287139.8:c.870G>T MANE Select | ENSP00000287139.3:p.Pro290= |
| NM_001329906.1:c.471G>T | NP_001316835.1:p.Pro157= |
| NM_001329906.2:c.471G>T | NP_001316835.1:p.Pro157= |
| NM_018055.4:c.870G>T | NP_060525.3:p.Pro290= |
| ENST00000287139.7:c.870G>T | ENSP00000287139.3:p.Pro290= |
| ENST00000414871.1:c.705G>T | ENSP00000394468.1:p.Pro235= |
| XM_024448028.1:c.471G>T | XP_024303796.1:p.Pro157= |