Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438534G= , CM000663.2:g.68438534G= | GRCh38 |
| NC_000001.10:g.68904217G= , CM000663.1:g.68904217G= | GRCh37 |
| NC_000001.9:g.68676805G= | NCBI36 |
| NG_008472.1:g.16426C= | |
| NG_008472.2:g.16426C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.999-218C= MANE Select | NP_000320.1:n.999-218C= |
| ENST00000262340.6:c.999-218C= MANE Select | ENSP00000262340.5:n.999-218C= |
| NM_000329.2:c.999-218C= | NP_000320.1:n.999-218C= |
| ENST00000262340.5:c.999-218C= | ENSP00000262340.5:n.999-218C= |
| XM_017002027.1:c.723-218C= | XP_016857516.1:n.723-218C= |