Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148217323C= , CM000669.2:g.148217323C= | GRCh38 |
| NC_000007.13:g.147914415C= , CM000669.1:g.147914415C= | GRCh37 |
| NC_000007.12:g.147545348C= | NCBI36 |
| NG_007092.2:g.2105963C= | |
| NG_007092.3:g.2106323C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.3046C= MANE Select | ENSP00000354778.3:p.Arg1016= | |
| ENST00000636870.1:n.2908C= | ||
| ENST00000637020.1:n.864C= | ||
| ENST00000361727.7:c.3046C= | ENSP00000354778.3:p.Arg1016= | |
| ENST00000627772.2:n.1219C= | ||
| ENST00000628930.2:c.223C= | ENSP00000487516.1:p.Arg75= | |
| NM_014141.5:c.3046C= | NP_054860.1:p.Arg1016= | |
| XM_006715919.1:c.1534C= | XP_006715982.1:p.Arg512= | |
| NM_014141.6:c.3046C= MANE Select | NP_054860.1:p.Arg1016= |