Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141096396G>A , CM000667.2:g.141096396G>A | GRCh38 |
| NC_000005.9:g.140475980G>A , CM000667.1:g.140475980G>A | GRCh37 |
| NC_000005.8:g.140456164G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018936.4:c.1606G>A MANE Select | NP_061759.1:p.Ala536Thr |
| ENST00000194155.7:c.1606G>A MANE Select | ENSP00000194155.4:p.Ala536Thr |
| NM_018936.3:c.1606G>A | NP_061759.1:p.Ala536Thr |
| ENST00000194155.6:c.1606G>A | ENSP00000194155.4:p.Ala536Thr |
| ENST00000622947.1:c.*1058G>A | ENSP00000485040.1:n.*1058G>A |