Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46004460T>C , CM000683.2:g.46004460T>C | GRCh38 |
| NC_000021.8:g.47424374T>C , CM000683.1:g.47424374T>C | GRCh37 |
| NC_000021.7:g.46248802T>C | NCBI36 |
| NG_008674.1:g.27712T>C , LRG_475:g.27712T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.*447T>C MANE Select | NP_001839.2:n.*447T>C |
| ENST00000361866.8:c.*447T>C MANE Select | ENSP00000355180.3:n.*447T>C |
| NM_001848.2:c.*447T>C , LRG_475t1:c.*447T>C | NP_001839.2:n.*447T>C |
| ENST00000361866.7:c.*447T>C | ENSP00000355180.3:n.*447T>C |
| ENST00000498614.5:n.1768T>C | |
| ENST00000612273.2:c.1199-116T>C | |
| ENST00000682634.1:c.1058-116T>C |