Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621829G>A , CM000676.2:g.49621829G>A | GRCh38 |
| NC_000014.8:g.50088547G>A , CM000676.1:g.50088547G>A | GRCh37 |
| NC_000014.7:g.49158297G>A | NCBI36 |
| NG_008920.1:g.6059G>A | |
| NG_033054.1:g.3803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.561G>A MANE Select | ENSP00000307423.2:p.Glu187= | |
| ENST00000305386.3:c.561G>A | ENSP00000307423.2:p.Glu187= | |
| NM_002408.3:c.561G>A | NP_002399.1:p.Glu187= | |
| NM_002408.4:c.561G>A MANE Select | NP_002399.1:p.Glu187= |