Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539760C= , CM000664.2:g.232539760C= | GRCh38 |
| NC_000002.11:g.233404470C= , CM000664.1:g.233404470C= | GRCh37 |
| NC_000002.10:g.233112714C= | NCBI36 |
| NG_012954.1:g.5034C= | |
| NG_012954.2:g.5069C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.13C= MANE Select | NP_005190.4:p.Gln5= |
| ENST00000651502.1:c.13C= MANE Select | ENSP00000498757.1:p.Gln5= |
| NM_005199.4:c.13C= | NP_005190.4:p.Gln5= |
| ENST00000389492.3:c.13C= | ENSP00000374143.3:p.Gln5= |
| ENST00000389494.7:c.13C= | ENSP00000374145.3:p.Gln5= |
| ENST00000485094.1:n.34C= |