Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942299G>T , CM000672.2:g.94942299G>T | GRCh38 |
| NC_000010.10:g.96702056G>T , CM000672.1:g.96702056G>T | GRCh37 |
| NC_000010.9:g.96692046G>T | NCBI36 |
| NG_008385.1:g.8642G>T | |
| NG_008385.2:g.9142G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.439G>T MANE Select | ENSP00000260682.6:p.Glu147Ter | |
| ENST00000643112.1:c.439G>T | ENSP00000496202.1:p.Glu147Ter | |
| ENST00000645207.1:n.592G>T | ||
| ENST00000260682.6:c.439G>T | ENSP00000260682.6:p.Glu147Ter | |
| ENST00000461906.1:n.464G>T | ||
| ENST00000473496.1:n.210G>T | ||
| NM_000771.3:c.439G>T | NP_000762.2:p.Glu147Ter | |
| NM_000771.4:c.439G>T MANE Select | NP_000762.2:p.Glu147Ter |