Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192695G= , CM000685.2:g.50192695G= | GRCh38 |
| NC_000023.10:g.49957346G= , CM000685.1:g.49957346G= | GRCh37 |
| NC_000023.9:g.49844086G= | NCBI36 |
| NG_012552.1:g.13319C= | |
| NG_012552.2:g.13319C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003886.3:c.2018C= MANE Select | NP_003877.2:p.Ala673= |
| ENST00000358526.7:c.2018C= MANE Select | ENSP00000351327.2:p.Ala673= |
| NM_003886.2:c.2018C= | NP_003877.2:p.Ala673= |
| NM_139289.1:c.1991C= | NP_647450.1:p.Ala664= |
| NM_139289.2:c.1991C= | NP_647450.1:p.Ala664= |
| ENST00000358526.6:c.2018C= | ENSP00000351327.2:p.Ala673= |
| ENST00000376064.7:c.1991C= | ENSP00000365232.3:p.Ala664= |
| ENST00000481402.5:n.2130C= |