Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595512G= , CM000681.2:g.3595512G= | GRCh38 |
| NC_000019.9:g.3595510G= , CM000681.1:g.3595510G= | GRCh37 |
| NC_000019.8:g.3546510G= | NCBI36 |
| NG_013363.1:g.16322C= , LRG_578:g.16322C= | |
| NG_031943.1:g.14942G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*176C= MANE Select | ENSP00000364336.4:n.*176C= | |
| ENST00000375190.8:c.*176C= | ENSP00000364336.3:n.*176C= | |
| ENST00000411851.3:c.983+225C= | ENSP00000393333.2:n.983+225C= | |
| ENST00000589966.1:c.*39C= | ENSP00000468145.1:n.*39C= | |
| NM_001060.5:c.*176C= , LRG_578t1:c.*176C= | NP_001051.1:n.*176C= | |
| NM_201636.2:c.983+225C= | NP_963998.2:n.983+225C= | |
| NM_001060.6:c.*176C= MANE Select | NP_001051.1:n.*176C= | |
| NM_201636.3:c.983+225C= | NP_963998.2:n.983+225C= |