Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942234G>T , CM000672.2:g.94942234G>T | GRCh38 |
| NC_000010.10:g.96701991G>T , CM000672.1:g.96701991G>T | GRCh37 |
| NC_000010.9:g.96691981G>T | NCBI36 |
| NG_008385.1:g.8577G>T | |
| NG_008385.2:g.9077G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.374G>T MANE Select | NP_000762.2:p.Arg125Leu |
| ENST00000260682.8:c.374G>T MANE Select | ENSP00000260682.6:p.Arg125Leu |
| NM_000771.3:c.374G>T | NP_000762.2:p.Arg125Leu |
| ENST00000260682.6:c.374G>T | ENSP00000260682.6:p.Arg125Leu |
| ENST00000461906.1:n.399G>T | |
| ENST00000473496.1:n.145G>T | |
| ENST00000643112.1:c.374G>T | ENSP00000496202.1:p.Arg125Leu |
| ENST00000645207.1:n.527G>T |