Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993150T= , CM000670.2:g.16993150T= | GRCh38 |
| NC_000008.10:g.16850659T= , CM000670.1:g.16850659T= | GRCh37 |
| NC_000008.9:g.16895030T= | NCBI36 |
| NG_015978.1:g.14016A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.558A= MANE Select | ENSP00000180166.5:p.Lys186= | |
| ENST00000180166.5:c.558A= | ENSP00000180166.5:p.Lys186= | |
| ENST00000519941.1:c.262A= | ||
| NM_019851.2:c.558A= | NP_062825.1:p.Lys186= | |
| NM_019851.3:c.558A= MANE Select | NP_062825.1:p.Lys186= |