Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818890C>G , CM000671.2:g.129818890C>G | GRCh38 |
| NC_000009.11:g.132581169C>G , CM000671.1:g.132581169C>G | GRCh37 |
| NC_000009.10:g.131620990C>G | NCBI36 |
| NG_008049.1:g.10273G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.475G>C MANE Select | ENSP00000345719.4:p.Val159Leu | |
| ENST00000651202.1:c.571G>C | ENSP00000498222.1:p.Val191Leu | |
| ENST00000351698.4:c.475G>C | ENSP00000345719.4:p.Val159Leu | |
| ENST00000473604.2:n.585G>C | ||
| NM_000113.2:c.475G>C | NP_000104.1:p.Val159Leu | |
| XR_929731.1:n.635G>C | ||
| XR_929731.3:n.503G>C | ||
| NM_000113.3:c.475G>C MANE Select | NP_000104.1:p.Val159Leu |