Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543375G>T , CM000669.2:g.21543375G>T | GRCh38 |
| NC_000007.13:g.21582993G>T , CM000669.1:g.21582993G>T | GRCh37 |
| NC_000007.12:g.21549518G>T | NCBI36 |
| NG_012886.2:g.5161G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.130G>T MANE Select | NP_001264044.1:p.Glu44Ter |
| ENST00000409508.8:c.130G>T MANE Select | ENSP00000475939.1:p.Glu44Ter |
| NM_001277115.1:c.130G>T | NP_001264044.1:p.Glu44Ter |
| ENST00000328843.10:c.130G>T | ENSP00000330671.7:p.Glu44Ter |
| ENST00000409508.7:c.130G>T | ENSP00000475939.1:p.Glu44Ter |
| ENST00000620169.4:c.130G>T | ENSP00000481693.1:p.Glu44Ter |