Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19797604C>T , CM000684.2:g.19797604C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329517.11:c.732+4397G>A MANE Select | ENSP00000331313.6:n.732+4397G>A | |
| ENST00000329517.10:c.732+4397G>A | ENSP00000331313.6:n.732+4397G>A | |
| ENST00000403325.5:c.732+4397G>A | ENSP00000385154.1:n.732+4397G>A | |
| ENST00000405009.5:c.630+4499G>A | ENSP00000384626.1:n.630+4499G>A | |
| ENST00000460402.5:n.700+4397G>A | ||
| NM_053004.2:c.732+4397G>A | NP_443730.1:n.732+4397G>A | |
| NM_053004.3:c.732+4397G>A MANE Select | NP_443730.1:n.732+4397G>A |