Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147300272G>T , CM000669.2:g.147300272G>T | GRCh38 |
| NC_000007.13:g.146997364G>T , CM000669.1:g.146997364G>T | GRCh37 |
| NC_000007.12:g.146628297G>T | NCBI36 |
| NG_007092.2:g.1188912G>T | |
| NG_007092.3:g.1189272G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1480G>T MANE Select | NP_054860.1:p.Glu494Ter |
| ENST00000361727.8:c.1480G>T MANE Select | ENSP00000354778.3:p.Glu494Ter |
| NM_014141.5:c.1480G>T | NP_054860.1:p.Glu494Ter |
| ENST00000361727.7:c.1480G>T | ENSP00000354778.3:p.Glu494Ter |
| ENST00000636870.1:n.1342G>T | |
| ENST00000637694.1:n.1383G>T | |
| ENST00000637825.1:n.963G>T | |
| ENST00000638117.1:n.1383G>T | |
| XM_006715919.1:c.-33G>T | XP_006715982.1:n.-33G>T |
| XM_017011950.2:c.1480G>T | XP_016867439.1:p.Glu494Ter |