Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143420C= , CM000666.2:g.185143420C= | GRCh38 |
| NC_000004.11:g.186064574C= , CM000666.1:g.186064574C= | GRCh37 |
| NC_000004.10:g.186301568C= | NCBI36 |
| NG_013001.1:g.5158C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.48C= MANE Select | ENSP00000281456.5:p.Gly16= | |
| ENST00000281456.10:c.48C= | ENSP00000281456.5:p.Gly16= | |
| ENST00000491736.1:c.48C= | ENSP00000476711.1:p.Gly16= | |
| NM_001151.3:c.48C= | NP_001142.2:p.Gly16= | |
| NM_001151.4:c.48C= MANE Select | NP_001142.2:p.Gly16= |