Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46413801C= , CM000663.2:g.46413801C= | GRCh38 |
| NC_000001.10:g.46879473C= , CM000663.1:g.46879473C= | GRCh37 |
| NC_000001.9:g.46652060C= | NCBI36 |
| NG_012195.1:g.24535C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243167.9:c.*226C= MANE Select | ENSP00000243167.8:n.*226C= | |
| ENST00000243167.8:c.*226C= | ENSP00000243167.8:n.*226C= | |
| ENST00000484697.5:c.999C= | ||
| NM_001441.2:c.*226C= | NP_001432.2:n.*226C= | |
| NM_001441.3:c.*226C= MANE Select | NP_001432.2:n.*226C= |