Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586487C>G , CM000679.2:g.41586487C>G | GRCh38 |
| NC_000017.10:g.39742739C>G , CM000679.1:g.39742739C>G | GRCh37 |
| NC_000017.9:g.36996265C>G | NCBI36 |
| NG_008624.1:g.5409G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.348G>C MANE Select | ENSP00000167586.6:p.Lys116Asn | |
| ENST00000167586.6:c.348G>C | ENSP00000167586.6:p.Lys116Asn | |
| NM_000526.4:c.348G>C | NP_000517.2:p.Lys116Asn | |
| NM_000526.5:c.348G>C MANE Select | NP_000517.3:p.Lys116Asn |