Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147300272G= , CM000669.2:g.147300272G= | GRCh38 |
| NC_000007.13:g.146997364G= , CM000669.1:g.146997364G= | GRCh37 |
| NC_000007.12:g.146628297G= | NCBI36 |
| NG_007092.2:g.1188912G= | |
| NG_007092.3:g.1189272G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1480G= MANE Select | NP_054860.1:p.Glu494= |
| ENST00000361727.8:c.1480G= MANE Select | ENSP00000354778.3:p.Glu494= |
| NM_014141.5:c.1480G= | NP_054860.1:p.Glu494= |
| ENST00000361727.7:c.1480G= | ENSP00000354778.3:p.Glu494= |
| ENST00000636870.1:n.1342G= | |
| ENST00000637694.1:n.1383G= | |
| ENST00000637825.1:n.963G= | |
| ENST00000638117.1:n.1383G= | |
| XM_006715919.1:c.-33G= | XP_006715982.1:n.-33G= |
| XM_017011950.2:c.1480G= | XP_016867439.1:p.Glu494= |