Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663232A>C , CM000676.2:g.36663232A>C | GRCh38 |
| NC_000014.8:g.37132437A>C , CM000676.1:g.37132437A>C | GRCh37 |
| NC_000014.7:g.36202188A>C | NCBI36 |
| NG_013357.1:g.10665A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001372076.1:c.340A>C MANE Select | NP_001359005.1:p.Lys114Gln |
| ENST00000361487.7:c.340A>C MANE Select | ENSP00000355245.6:p.Lys114Gln |
| NM_006194.3:c.340A>C | NP_006185.1:p.Lys114Gln |
| NM_006194.4:c.340A>C | NP_006185.1:p.Lys114Gln |
| ENST00000361487.6:c.340A>C | ENSP00000355245.6:p.Lys114Gln |
| ENST00000402703.6:c.340A>C | ENSP00000384817.2:p.Lys114Gln |
| ENST00000554201.1:c.-222A>C | ENSP00000450434.1:n.-222A>C |