Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17861366G>A , CM000681.2:g.17861366G>A | GRCh38 |
| NC_000019.9:g.17972175G>A , CM000681.1:g.17972175G>A | GRCh37 |
| NC_000019.8:g.17833175G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222247.10:c.92G>A MANE Select | ENSP00000222247.4:p.Arg31Gln | |
| ENST00000222247.9:c.92G>A | ENSP00000222247.4:p.Arg31Gln | |
| ENST00000597648.5:c.5G>A | ENSP00000473155.1:p.Arg2Gln | |
| ENST00000599870.1:c.5G>A | ENSP00000471748.1:p.Arg2Gln | |
| ENST00000599898.5:c.34-59G>A | ENSP00000471360.1:n.34-59G>A | |
| ENST00000600147.5:c.92G>A | ENSP00000471584.1:p.Arg31Gln | |
| ENST00000600238.1:n.34G>A | ||
| ENST00000602216.1:n.96G>A | ||
| NM_000980.3:c.92G>A | NP_000971.1:p.Arg31Gln | |
| NM_000980.4:c.92G>A MANE Select | NP_000971.1:p.Arg31Gln |