Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866760C>A , CM000679.2:g.40866760C>A | GRCh38 |
| NC_000017.10:g.39023012C>A , CM000679.1:g.39023012C>A | GRCh37 |
| NC_000017.9:g.36276538C>A | NCBI36 |
| NG_008077.1:g.5451G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000223.4:c.427G>T MANE Select | NP_000214.1:p.Val143Leu |
| ENST00000251643.5:c.427G>T MANE Select | ENSP00000251643.4:p.Val143Leu |
| NM_000223.3:c.427G>T | NP_000214.1:p.Val143Leu |
| ENST00000251643.4:c.427G>T | ENSP00000251643.4:p.Val143Leu |
| ENST00000647902.1:c.319G>T | ENSP00000497770.1:p.Val107Leu |
| XR_934754.1:n.1500+15900C>A | |
| XR_934754.2:n.2008+15900C>A |