Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147300239C>T , CM000669.2:g.147300239C>T | GRCh38 |
| NC_000007.13:g.146997331C>T , CM000669.1:g.146997331C>T | GRCh37 |
| NC_000007.12:g.146628264C>T | NCBI36 |
| NG_007092.2:g.1188879C>T | |
| NG_007092.3:g.1189239C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1447C>T MANE Select | NP_054860.1:p.Arg483Ter |
| ENST00000361727.8:c.1447C>T MANE Select | ENSP00000354778.3:p.Arg483Ter |
| NM_014141.5:c.1447C>T | NP_054860.1:p.Arg483Ter |
| ENST00000361727.7:c.1447C>T | ENSP00000354778.3:p.Arg483Ter |
| ENST00000636870.1:n.1309C>T | |
| ENST00000637694.1:n.1350C>T | |
| ENST00000637825.1:n.930C>T | |
| ENST00000638117.1:n.1350C>T | |
| XM_006715919.1:c.-66C>T | XP_006715982.1:n.-66C>T |
| XM_017011950.2:c.1447C>T | XP_016867439.1:p.Arg483Ter |