Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22151963C>T , CM000670.2:g.22151963C>T | GRCh38 |
| NC_000008.10:g.22009476C>T , CM000670.1:g.22009476C>T | GRCh37 |
| NC_000008.9:g.22065421C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.532G>A MANE Select | NP_644807.1:p.Val178Met |
| ENST00000306317.7:c.532G>A MANE Select | ENSP00000302297.2:p.Val178Met |
| NM_139278.2:c.532G>A | NP_644807.1:p.Val178Met |
| NM_139278.3:c.532G>A | NP_644807.1:p.Val178Met |
| ENST00000306317.6:c.532G>A | ENSP00000302297.2:p.Val178Met |
| ENST00000424267.6:c.460G>A | ENSP00000399121.2:p.Val154Met |
| ENST00000517694.1:c.346G>A | ENSP00000427817.2:p.Val116Met |
| ENST00000518365.1:c.*173G>A | ENSP00000430653.1:n.*173G>A |
| ENST00000520124.5:n.1975G>A |