Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31362783G= , CM000664.2:g.31362783G= | GRCh38 |
| NC_000002.11:g.31585649G= , CM000664.1:g.31585649G= | GRCh37 |
| NC_000002.10:g.31439153G= | NCBI36 |
| NG_008871.1:g.56963C= | |
| NG_008871.2:g.56963C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000379.4:c.2631+1375C= MANE Select | NP_000370.2:n.2631+1375C= |
| ENST00000379416.4:c.2631+1375C= MANE Select | ENSP00000368727.3:n.2631+1375C= |
| NM_000379.3:c.2631+1375C= | NP_000370.2:n.2631+1375C= |
| ENST00000379416.3:c.2631+1375C= | ENSP00000368727.3:n.2631+1375C= |
| XM_011533095.1:c.2628+1375C= | XP_011531397.1:n.2628+1375C= |
| XM_011533095.2:c.2628+1375C= | XP_011531397.1:n.2628+1375C= |
| XM_011533096.1:c.2631+1375C= | XP_011531398.1:n.2631+1375C= |
| XM_011533096.2:c.2631+1375C= | XP_011531398.1:n.2631+1375C= |