Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151267341G>T , CM000667.2:g.151267341G>T | GRCh38 |
| NC_000005.9:g.150646902G>T , CM000667.1:g.150646902G>T | GRCh37 |
| NC_000005.8:g.150627095G>T | NCBI36 |
| NG_009059.1:g.19290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.472G>T MANE Select | ENSP00000349687.3:p.Glu158Ter | |
| ENST00000357164.3:c.472G>T | ENSP00000349687.3:p.Glu158Ter | |
| NM_000405.4:c.472G>T | NP_000396.2:p.Glu158Ter | |
| NM_001167607.1:c.413-151G>T | NP_001161079.1:n.413-151G>T | |
| NM_000405.5:c.472G>T MANE Select | NP_000396.2:p.Glu158Ter | |
| NM_001167607.2:c.413-151G>T | NP_001161079.1:n.413-151G>T | |
| NM_001167607.3:c.413-151G>T | NP_001161079.1:n.413-151G>T |