Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993179C= , CM000670.2:g.16993179C= | GRCh38 |
| NC_000008.10:g.16850688C= , CM000670.1:g.16850688C= | GRCh37 |
| NC_000008.9:g.16895059C= | NCBI36 |
| NG_015978.1:g.13987G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.529G= MANE Select | ENSP00000180166.5:p.Asp177= | |
| ENST00000180166.5:c.529G= | ENSP00000180166.5:p.Asp177= | |
| ENST00000519941.1:c.233G= | ||
| NM_019851.2:c.529G= | NP_062825.1:p.Asp177= | |
| NM_019851.3:c.529G= MANE Select | NP_062825.1:p.Asp177= |