Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445448C= , CM000673.2:g.2445448C= | GRCh38 |
| NC_000011.9:g.2466678C= , CM000673.1:g.2466678C= | GRCh37 |
| NC_000011.8:g.2423254C= | NCBI36 |
| NG_008935.1:g.5458C= , LRG_287:g.5458C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.350C= MANE Select | NP_000209.2:p.Pro117= |
| ENST00000155840.12:c.350C= MANE Select | ENSP00000155840.2:p.Pro117= |
| NM_000218.2:c.350C= , LRG_287t1:c.350C= | NP_000209.2:p.Pro117= |
| ENST00000155840.9:c.350C= | ENSP00000155840.2:p.Pro117= |
| ENST00000345015.4:n.127C= | |
| ENST00000496887.6:c.89C= | ENSP00000434560.1:p.Pro30= |
| ENST00000496887.7:c.89C= | ENSP00000434560.2:p.Pro30= |
| ENST00000646564.2:c.350C= | ENSP00000495806.2:p.Pro117= |