Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.770483G>A , CM000669.2:g.770483G>A | GRCh38 |
| NC_000007.13:g.810120G>A , CM000669.1:g.810120G>A | GRCh37 |
| NC_000007.12:g.776646G>A | NCBI36 |
| NG_033137.1:g.48783G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.1796G>A MANE Select | NP_060272.3:p.Gly599Glu |
| ENST00000297440.11:c.1796G>A MANE Select | ENSP00000297440.6:p.Gly599Glu |
| NM_017802.3:c.1796G>A | NP_060272.3:p.Gly599Glu |
| NR_075098.1:n.1754G>A | |
| NR_075098.2:n.1756G>A | |
| ENST00000297440.10:c.1796G>A | ENSP00000297440.6:p.Gly599Glu |
| ENST00000403952.3:c.71G>A | ENSP00000384884.3:p.Gly24Glu |
| ENST00000440747.5:c.1200G>A | |
| ENST00000491496.1:n.81G>A | |
| XM_024446813.1:c.1796G>A | XP_024302581.1:p.Gly599Glu |
| XM_024446814.1:c.1190G>A | XP_024302582.1:p.Gly397Glu |