Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83899651G>C , CM000678.2:g.83899651G>C | GRCh38 |
| NC_000016.9:g.83933256G>C , CM000678.1:g.83933256G>C | GRCh37 |
| NC_000016.8:g.82490757G>C | NCBI36 |
| NG_009079.1:g.5527G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.507G>C MANE Select | NP_036345.2:p.Leu169= |
| ENST00000262430.6:c.507G>C MANE Select | ENSP00000262430.4:p.Leu169= |
| NM_012213.2:c.507G>C | NP_036345.2:p.Leu169= |
| ENST00000262430.5:c.507G>C | ENSP00000262430.4:p.Leu169= |