Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138465844C= , CM000667.2:g.138465844C= | GRCh38 |
| NC_000005.9:g.137801533C= , CM000667.1:g.137801533C= | GRCh37 |
| NC_000005.8:g.137829432C= | NCBI36 |
| NG_021374.1:g.5353C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001964.3:c.83C= MANE Select | NP_001955.1:p.Thr28= |
| ENST00000239938.5:c.83C= MANE Select | ENSP00000239938.4:p.Thr28= |
| NM_001964.2:c.83C= | NP_001955.1:p.Thr28= |
| ENST00000239938.4:c.83C= | ENSP00000239938.4:p.Thr28= |