Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687957C= , CM000679.2:g.42687957C= | GRCh38 |
| NC_000017.10:g.40839975C= , CM000679.1:g.40839975C= | GRCh37 |
| NC_000017.9:g.38093501C= | NCBI36 |
| NG_042091.1:g.10344C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1282C= MANE Select | ENSP00000264638.3:p.Arg428= | |
| ENST00000264638.8:c.1282C= | ENSP00000264638.3:p.Arg428= | |
| ENST00000586801.1:n.697C= | ||
| ENST00000591662.1:c.1282C= | ENSP00000466571.1:p.Arg428= | |
| NM_003632.2:c.1282C= | NP_003623.1:p.Arg428= | |
| XM_005257748.3:c.1054C= | XP_005257805.1:p.Arg352= | |
| XM_005257748.4:c.1054C= | XP_005257805.1:p.Arg352= | |
| XM_017025238.1:c.1282C= | XP_016880727.1:p.Arg428= | |
| XM_024451011.1:c.1282C= | XP_024306779.1:p.Arg428= | |
| NM_003632.3:c.1282C= MANE Select | NP_003623.1:p.Arg428= |