Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119768819T>C , CM000663.2:g.119768819T>C | GRCh38 |
| NC_000001.10:g.120311442T>C , CM000663.1:g.120311442T>C | GRCh37 |
| NC_000001.9:g.120112965T>C | NCBI36 |
| NG_013348.1:g.5114A>G , LRG_447:g.5114A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005518.4:c.26A>G MANE Select | NP_005509.1:p.Lys9Arg |
| ENST00000369406.8:c.26A>G MANE Select | ENSP00000358414.3:p.Lys9Arg |
| NM_001166107.1:c.26A>G , LRG_447t2:c.26A>G | NP_001159579.1:p.Lys9Arg |
| NM_005518.3:c.26A>G , LRG_447t1:c.26A>G | NP_005509.1:p.Lys9Arg |
| ENST00000369406.7:c.26A>G | ENSP00000358414.3:p.Lys9Arg |
| ENST00000544913.2:c.26A>G | ENSP00000439495.2:p.Lys9Arg |
| XM_011541313.1:c.26A>G | XP_011539615.1:p.Lys9Arg |
| XM_011541313.2:c.26A>G | XP_011539615.1:p.Lys9Arg |