Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595524G= , CM000681.2:g.3595524G= | GRCh38 |
| NC_000019.9:g.3595522G= , CM000681.1:g.3595522G= | GRCh37 |
| NC_000019.8:g.3546522G= | NCBI36 |
| NG_013363.1:g.16310C= , LRG_578:g.16310C= | |
| NG_031943.1:g.14954G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001060.6:c.*164C= MANE Select | NP_001051.1:n.*164C= |
| ENST00000375190.10:c.*164C= MANE Select | ENSP00000364336.4:n.*164C= |
| NM_001060.5:c.*164C= , LRG_578t1:c.*164C= | NP_001051.1:n.*164C= |
| NM_201636.2:c.983+213C= | NP_963998.2:n.983+213C= |
| NM_201636.3:c.983+213C= | NP_963998.2:n.983+213C= |
| ENST00000375190.8:c.*164C= | ENSP00000364336.3:n.*164C= |
| ENST00000411851.3:c.983+213C= | ENSP00000393333.2:n.983+213C= |
| ENST00000589966.1:c.*27C= | ENSP00000468145.1:n.*27C= |