Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88804043G>T , CM000678.2:g.88804043G>T | GRCh38 |
| NC_000016.9:g.88870451G>T , CM000678.1:g.88870451G>T | GRCh37 |
| NC_000016.8:g.87397952G>T | NCBI36 |
| NG_028266.1:g.5266G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.212G>T MANE Select | ENSP00000301019.4:p.Arg71Leu | |
| ENST00000301019.8:c.212G>T | ENSP00000301019.4:p.Arg71Leu | |
| NM_030928.3:c.212G>T | NP_112190.2:p.Arg71Leu | |
| NM_030928.4:c.212G>T MANE Select | NP_112190.2:p.Arg71Leu |