Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209786204G= , CM000663.2:g.209786204G= | GRCh38 |
| NC_000001.10:g.209959549G= , CM000663.1:g.209959549G= | GRCh37 |
| NC_000001.9:g.208026172G= | NCBI36 |
| NG_007081.2:g.24931C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.1400+2220C= | ENSP00000512426.1:n.1400+2220C= | |
| ENST00000696134.1:c.*3047C= | ENSP00000512427.1:n.*3047C= | |
| ENST00000367021.8:c.*2216C= MANE Select | ENSP00000355988.3:n.*2216C= | |
| ENST00000367021.7:c.*2216C= | ENSP00000355988.3:n.*2216C= | |
| ENST00000542854.5:c.*2216C= | ENSP00000440532.1:n.*2216C= | |
| NM_001206696.1:c.*2216C= | NP_001193625.1:n.*2216C= | |
| NM_006147.3:c.*2216C= | NP_006138.1:n.*2216C= | |
| NM_006147.4:c.*2216C= MANE Select | NP_006138.1:n.*2216C= | |
| NM_001206696.2:c.*2216C= | NP_001193625.1:n.*2216C= |