Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086735G= , CM000673.2:g.112086735G= | GRCh38 |
| NC_000011.9:g.111957459G= , CM000673.1:g.111957459G= | GRCh37 |
| NC_000011.8:g.111462669G= | NCBI36 |
| NG_012337.2:g.4889G= | |
| NG_033145.1:g.5064C= | |
| NG_012337.3:g.4889G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504148.3:c.-12C= MANE Select | ENSP00000422122.2:n.-12C= | |
| ENST00000504148.2:c.-12C= | ENSP00000422122.2:n.-12C= | |
| ENST00000509359.6:c.-12C= | ENSP00000421964.2:n.-12C= | |
| ENST00000541231.1:c.34C= | ENSP00000438455.1:p.Leu12= | |
| NM_012459.2:c.34C= | NP_036591.2:p.Leu12= | |
| NR_028383.1:n.64C= | ||
| NM_012459.3:c.-12C= | NP_036591.3:n.-12C= | |
| NR_028383.2:n.22C= | ||
| NR_160400.1:n.22C= | ||
| NM_012459.4:c.-12C= MANE Select | NP_036591.3:n.-12C= |