Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375692G>C , CM000676.2:g.23375692G>C | GRCh38 |
| NC_000014.8:g.23844901G>C , CM000676.1:g.23844901G>C | GRCh37 |
| NC_000014.7:g.22914741G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.298G>C MANE Select | ENSP00000380417.2:p.Val100Leu | |
| ENST00000329715.2:c.346G>C | ENSP00000328111.2:p.Val116Leu | |
| ENST00000397242.2:c.298G>C | ENSP00000380417.2:p.Val100Leu | |
| NM_022789.3:c.346G>C | NP_073626.1:p.Val116Leu | |
| NM_172314.1:c.298G>C | NP_758525.1:p.Val100Leu |