Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086753A= , CM000673.2:g.112086753A= | GRCh38 |
| NC_000011.9:g.111957477A= , CM000673.1:g.111957477A= | GRCh37 |
| NC_000011.8:g.111462687A= | NCBI36 |
| NG_012337.2:g.4907A= | |
| NG_033145.1:g.5046T= | |
| NG_012337.3:g.4907A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.3:c.-30T= MANE Select | ENSP00000422122.2:n.-30T= | |
| ENST00000504148.2:c.-30T= | ENSP00000422122.2:n.-30T= | |
| ENST00000509359.6:c.-30T= | ENSP00000421964.2:n.-30T= | |
| ENST00000541231.1:c.16T= | ENSP00000438455.1:p.Cys6= | |
| NM_012459.2:c.16T= | NP_036591.2:p.Cys6= | |
| NR_028383.1:n.46T= | ||
| NM_012459.3:c.-30T= | NP_036591.3:n.-30T= | |
| NR_028383.2:n.4T= | ||
| NR_160400.1:n.4T= | ||
| NM_012459.4:c.-30T= MANE Select | NP_036591.3:n.-30T= |