Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145892G>C , CM000666.2:g.185145892G>C | GRCh38 |
| NC_000004.11:g.186067046G>C , CM000666.1:g.186067046G>C | GRCh37 |
| NC_000004.10:g.186304040G>C | NCBI36 |
| NG_013001.1:g.7630G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.732G>C MANE Select | ENSP00000281456.5:p.Arg244= | |
| ENST00000281456.10:c.732G>C | ENSP00000281456.5:p.Arg244= | |
| ENST00000491736.1:c.*509G>C | ENSP00000476711.1:n.*509G>C | |
| NM_001151.3:c.732G>C | NP_001142.2:p.Arg244= | |
| NM_001151.4:c.732G>C MANE Select | NP_001142.2:p.Arg244= |