Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077545C= , CM000677.2:g.65077545C= | GRCh38 |
| NC_000015.9:g.65369883C= , CM000677.1:g.65369883C= | GRCh37 |
| NC_000015.8:g.63156936C= | NCBI36 |
| NG_021411.1:g.5730C= , LRG_682:g.5730C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.730C= MANE Select | ENSP00000388723.2:p.Pro244= | |
| ENST00000432196.3:c.730C= | ENSP00000388723.2:p.Pro244= | |
| NM_001101362.2:c.730C= , LRG_682t1:c.730C= | NP_001094832.1:p.Pro244= | |
| NM_001101362.3:c.730C= MANE Select | NP_001094832.1:p.Pro244= |