Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086764C= , CM000673.2:g.112086764C= | GRCh38 |
| NC_000011.9:g.111957488C= , CM000673.1:g.111957488C= | GRCh37 |
| NC_000011.8:g.111462698C= | NCBI36 |
| NG_012337.2:g.4918C= | |
| NG_033145.1:g.5035G= | |
| NG_012337.3:g.4918C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.2:c.-41G= | ENSP00000422122.2:n.-41G= | |
| ENST00000509359.6:c.-41G= | ENSP00000421964.2:n.-41G= | |
| ENST00000541231.1:c.5G= | ENSP00000438455.1:p.Arg2= | |
| NM_012459.2:c.5G= | NP_036591.2:p.Arg2= | |
| NR_028383.1:n.35G= |