Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932003C>T , CM000666.2:g.67932003C>T | GRCh38 |
| NC_000004.11:g.68797721C>T , CM000666.1:g.68797721C>T | GRCh37 |
| NC_000004.10:g.68480316C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.310G>A MANE Select | ENSP00000426911.2:p.Val104Ile | |
| ENST00000334830.11:c.319G>A | ENSP00000334611.7:p.Val107Ile | |
| ENST00000396188.3:c.310G>A | ENSP00000379491.3:p.Val104Ile | |
| ENST00000508048.5:c.310G>A | ENSP00000426911.2:p.Val104Ile | |
| ENST00000513536.5:c.250G>A | ENSP00000427621.1:p.Val84Ile | |
| NM_001114387.1:c.310G>A | NP_001107859.1:p.Val104Ile | |
| NM_182606.3:c.319G>A | NP_872412.3:p.Val107Ile | |
| NM_001114387.2:c.310G>A MANE Select | NP_001107859.1:p.Val104Ile | |
| NM_182606.4:c.319G>A | NP_872412.3:p.Val107Ile |