Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838684C= , CM000685.2:g.68838684C= | GRCh38 |
| NC_000023.10:g.68058527C= , CM000685.1:g.68058527C= | GRCh37 |
| NC_000023.9:g.67975252C= | NCBI36 |
| NG_008887.1:g.14688C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004429.5:c.196C= MANE Select | NP_004420.1:p.Arg66= |
| ENST00000204961.5:c.196C= MANE Select | ENSP00000204961.4:p.Arg66= |
| NM_004429.4:c.196C= | NP_004420.1:p.Arg66= |
| ENST00000204961.4:c.196C= | ENSP00000204961.4:p.Arg66= |