Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536620C= , CM000679.2:g.42536620C= | GRCh38 |
| NC_000017.10:g.40688638C= , CM000679.1:g.40688638C= | GRCh37 |
| NC_000017.9:g.37942164C= | NCBI36 |
| NG_011552.1:g.5688C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.348C= MANE Select | ENSP00000225927.1:p.Ala116= | |
| ENST00000225927.6:c.348C= | ENSP00000225927.1:p.Ala116= | |
| ENST00000586516.5:c.98C= | ||
| ENST00000591587.1:c.91C= | ENSP00000467836.1:p.Arg31= | |
| NM_000263.3:c.348C= | NP_000254.2:p.Ala116= | |
| XM_006721920.2:c.-395C= | XP_006721983.1:n.-395C= | |
| XM_011524840.1:c.-395C= | XP_011523142.1:n.-395C= | |
| XM_024450771.1:c.348C= | XP_024306539.1:p.Ala116= | |
| NM_000263.4:c.348C= MANE Select | NP_000254.2:p.Ala116= |