Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176796C= , CM000674.2:g.21176796C= | GRCh38 |
| NC_000012.11:g.21329730C= , CM000674.1:g.21329730C= | GRCh37 |
| NC_000012.10:g.21220997C= | NCBI36 |
| NG_011745.1:g.50603C= , LRG_1022:g.50603C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.380C= MANE Select | ENSP00000256958.2:p.Thr127= | |
| ENST00000256958.2:c.380C= | ENSP00000256958.2:p.Thr127= | |
| ENST00000543498.5:c.446C= | ||
| NM_006446.4:c.380C= , LRG_1022t1:c.380C= | NP_006437.3:p.Thr127= | |
| NM_006446.5:c.380C= MANE Select | NP_006437.3:p.Thr127= |