Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519160C>G , CM000674.2:g.52519160C>G | GRCh38 |
| NC_000012.11:g.52912944C>G , CM000674.1:g.52912944C>G | GRCh37 |
| NC_000012.10:g.51199211C>G | NCBI36 |
| NG_008297.1:g.6300G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.556G>C MANE Select | ENSP00000252242.4:p.Val186Leu | |
| ENST00000252242.8:c.556G>C | ENSP00000252242.4:p.Val186Leu | |
| ENST00000549420.1:c.226G>C | ENSP00000447209.1:p.Val76Leu | |
| ENST00000551013.1:n.84G>C | ||
| ENST00000552629.5:n.654G>C | ||
| NM_000424.3:c.556G>C | NP_000415.2:p.Val186Leu | |
| NM_000424.4:c.556G>C MANE Select | NP_000415.2:p.Val186Leu |