Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147300239C= , CM000669.2:g.147300239C= | GRCh38 |
| NC_000007.13:g.146997331C= , CM000669.1:g.146997331C= | GRCh37 |
| NC_000007.12:g.146628264C= | NCBI36 |
| NG_007092.2:g.1188879C= | |
| NG_007092.3:g.1189239C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1447C= MANE Select | NP_054860.1:p.Arg483= |
| ENST00000361727.8:c.1447C= MANE Select | ENSP00000354778.3:p.Arg483= |
| NM_014141.5:c.1447C= | NP_054860.1:p.Arg483= |
| ENST00000361727.7:c.1447C= | ENSP00000354778.3:p.Arg483= |
| ENST00000636870.1:n.1309C= | |
| ENST00000637694.1:n.1350C= | |
| ENST00000637825.1:n.930C= | |
| ENST00000638117.1:n.1350C= | |
| XM_006715919.1:c.-66C= | XP_006715982.1:n.-66C= |
| XM_017011950.2:c.1447C= | XP_016867439.1:p.Arg483= |