Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445213G>T , CM000673.2:g.2445213G>T | GRCh38 |
| NC_000011.9:g.2466443G>T , CM000673.1:g.2466443G>T | GRCh37 |
| NC_000011.8:g.2423019G>T | NCBI36 |
| NG_008935.1:g.5223G>T , LRG_287:g.5223G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.115G>T MANE Select | NP_000209.2:p.Glu39Ter |
| ENST00000155840.12:c.115G>T MANE Select | ENSP00000155840.2:p.Glu39Ter |
| NM_000218.2:c.115G>T , LRG_287t1:c.115G>T | NP_000209.2:p.Glu39Ter |
| ENST00000155840.9:c.115G>T | ENSP00000155840.2:p.Glu39Ter |
| ENST00000496887.6:c.24-170G>T | ENSP00000434560.1:n.24-170G>T |
| ENST00000496887.7:c.24-170G>T | ENSP00000434560.2:n.24-170G>T |
| ENST00000646564.2:c.115G>T | ENSP00000495806.2:p.Glu39Ter |