Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230837A>G , CM000673.2:g.66230837A>G | GRCh38 |
| NC_000011.9:g.65998308A>G , CM000673.1:g.65998308A>G | GRCh37 |
| NC_000011.8:g.65754884A>G | NCBI36 |
| NG_033900.1:g.165485A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1523A>G MANE Select | NP_060496.2:p.Lys508Arg |
| ENST00000320580.9:c.1523A>G MANE Select | ENSP00000316454.4:p.Lys508Arg |
| NM_018026.3:c.1523A>G | NP_060496.2:p.Lys508Arg |
| ENST00000320580.8:c.1523A>G | ENSP00000316454.4:p.Lys508Arg |
| ENST00000529757.5:c.131A>G | ENSP00000432858.1:p.Lys44Arg |
| XM_011545162.1:c.1202A>G | XP_011543464.1:p.Lys401Arg |
| XM_011545163.1:c.1193A>G | XP_011543465.1:p.Lys398Arg |
| XM_011545164.1:c.1184A>G | XP_011543466.1:p.Lys395Arg |
| XM_011545164.2:c.1184A>G | XP_011543466.1:p.Lys395Arg |