Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.644459G>A , CM000685.2:g.644459G>A | GRCh38 |
| NC_000023.10:g.605194G>A , CM000685.1:g.605194G>A | GRCh37 |
| NC_000023.9:g.525194G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000686671.1:c.702G>A MANE Select | ENSP00000508521.1:p.Ala234= |
| ENST00000334060.8:c.633+3372G>A | ENSP00000335505.3:n.633+3372G>A |
| ENST00000381575.6:c.633+3372G>A | ENSP00000370987.1:n.633+3372G>A |
| ENST00000381578.6:c.702G>A | ENSP00000370990.1:p.Ala234= |
| ENST00000554971.6:c.702G>A | ENSP00000452016.1:p.Ala234= |