Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228174804G>T , CM000663.2:g.228174804G>T | GRCh38 |
| NC_000001.10:g.228362505G>T , CM000663.1:g.228362505G>T | GRCh37 |
| NC_000001.9:g.226429128G>T | NCBI36 |
| NG_042231.1:g.13997G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010867.4:c.454G>T MANE Select | NP_001010867.1:p.Glu152Ter |
| ENST00000366711.4:c.454G>T MANE Select | ENSP00000355672.3:p.Glu152Ter |
| NM_001010867.2:c.454G>T | NP_001010867.1:p.Glu152Ter |
| NM_001010867.3:c.454G>T | NP_001010867.1:p.Glu152Ter |
| NM_001310327.1:c.-126G>T | NP_001297256.1:n.-126G>T |
| NM_001310327.2:c.-126G>T | NP_001297256.1:n.-126G>T |
| ENST00000366711.3:c.454G>T | ENSP00000355672.3:p.Glu152Ter |
| ENST00000484749.5:n.2454G>T | |
| ENST00000546123.2:n.174G>T | |
| XM_006711753.2:c.454G>T | XP_006711816.1:p.Glu152Ter |