Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68840021C= , CM000685.2:g.68840021C= | GRCh38 |
| NC_000023.10:g.68059864C= , CM000685.1:g.68059864C= | GRCh37 |
| NC_000023.9:g.67976589C= | NCBI36 |
| NG_008887.1:g.16025C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.561C= MANE Select | ENSP00000204961.4:p.Asn187= | |
| ENST00000204961.4:c.561C= | ENSP00000204961.4:p.Asn187= | |
| NM_004429.4:c.561C= | NP_004420.1:p.Asn187= | |
| NM_004429.5:c.561C= MANE Select | NP_004420.1:p.Asn187= |