Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423091G>A , CM000669.2:g.94423091G>A | GRCh38 |
| NC_000007.13:g.94052403G>A , CM000669.1:g.94052403G>A | GRCh37 |
| NC_000007.12:g.93890339G>A | NCBI36 |
| NG_007405.1:g.33531G>A , LRG_2:g.33531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2538G>A MANE Select | ENSP00000297268.6:p.Lys846= | |
| ENST00000297268.10:c.2538G>A | ENSP00000297268.6:p.Lys846= | |
| ENST00000481570.5:n.621G>A | ||
| ENST00000497316.5:n.935G>A | ||
| ENST00000620463.1:c.2532G>A | ENSP00000477719.1:p.Lys844= | |
| NM_000089.3:c.2538G>A , LRG_2t1:c.2538G>A | NP_000080.2:p.Lys846= | |
| NM_000089.4:c.2538G>A MANE Select | NP_000080.2:p.Lys846= |