Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83899273G>T , CM000678.2:g.83899273G>T | GRCh38 |
| NC_000016.9:g.83932878G>T , CM000678.1:g.83932878G>T | GRCh37 |
| NC_000016.8:g.82490379G>T | NCBI36 |
| NG_009079.1:g.5149G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.129G>T MANE Select | NP_036345.2:p.Leu43= |
| ENST00000262430.6:c.129G>T MANE Select | ENSP00000262430.4:p.Leu43= |
| NM_012213.2:c.129G>T | NP_036345.2:p.Leu43= |
| ENST00000262430.5:c.129G>T | ENSP00000262430.4:p.Leu43= |