Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663232A= , CM000676.2:g.36663232A= | GRCh38 |
| NC_000014.8:g.37132437A= , CM000676.1:g.37132437A= | GRCh37 |
| NC_000014.7:g.36202188A= | NCBI36 |
| NG_013357.1:g.10665A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001372076.1:c.340A= MANE Select | NP_001359005.1:p.Lys114= |
| ENST00000361487.7:c.340A= MANE Select | ENSP00000355245.6:p.Lys114= |
| NM_006194.3:c.340A= | NP_006185.1:p.Lys114= |
| NM_006194.4:c.340A= | NP_006185.1:p.Lys114= |
| ENST00000361487.6:c.340A= | ENSP00000355245.6:p.Lys114= |
| ENST00000402703.6:c.340A= | ENSP00000384817.2:p.Lys114= |
| ENST00000554201.1:c.-222A= | ENSP00000450434.1:n.-222A= |