Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595511G= , CM000681.2:g.3595511G= | GRCh38 |
| NC_000019.9:g.3595509G= , CM000681.1:g.3595509G= | GRCh37 |
| NC_000019.8:g.3546509G= | NCBI36 |
| NG_013363.1:g.16323C= , LRG_578:g.16323C= | |
| NG_031943.1:g.14941G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*177C= MANE Select | ENSP00000364336.4:n.*177C= | |
| ENST00000375190.8:c.*177C= | ENSP00000364336.3:n.*177C= | |
| ENST00000411851.3:c.983+226C= | ENSP00000393333.2:n.983+226C= | |
| ENST00000589966.1:c.*40C= | ENSP00000468145.1:n.*40C= | |
| NM_001060.5:c.*177C= , LRG_578t1:c.*177C= | NP_001051.1:n.*177C= | |
| NM_201636.2:c.983+226C= | NP_963998.2:n.983+226C= | |
| NM_001060.6:c.*177C= MANE Select | NP_001051.1:n.*177C= | |
| NM_201636.3:c.983+226C= | NP_963998.2:n.983+226C= |