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