Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242569G= , CM000684.2:g.20242569G= | GRCh38 |
| NC_000022.10:g.20230092G= , CM000684.1:g.20230092G= | GRCh37 |
| NC_000022.9:g.18610092G= | NCBI36 |
| NG_012176.1:g.30725C= | |
| NG_012176.2:g.30725C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.564C= MANE Select | ENSP00000043402.7:p.Asn188= | |
| ENST00000043402.7:c.564C= | ENSP00000043402.7:p.Asn188= | |
| ENST00000416372.5:c.623C= | ||
| ENST00000425986.1:c.821C= | ||
| NM_023004.5:c.564C= | NP_075380.1:p.Asn188= | |
| NM_023004.6:c.564C= MANE Select | NP_075380.1:p.Asn188= |