Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119750830C= , CM000663.2:g.119750830C= | GRCh38 |
| NC_000001.10:g.120293453C= , CM000663.1:g.120293453C= | GRCh37 |
| NC_000001.9:g.120094976C= | NCBI36 |
| NG_013348.1:g.23103G= , LRG_447:g.23103G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005518.4:c.1499G= MANE Select | NP_005509.1:p.Arg500= |
| ENST00000369406.8:c.1499G= MANE Select | ENSP00000358414.3:p.Arg500= |
| NM_001166107.1:c.1373G= , LRG_447t2:c.1373G= | NP_001159579.1:p.Arg458= |
| NM_005518.3:c.1499G= , LRG_447t1:c.1499G= | NP_005509.1:p.Arg500= |
| ENST00000369406.7:c.1499G= | ENSP00000358414.3:p.Arg500= |
| ENST00000544913.2:c.1373G= | ENSP00000439495.2:p.Arg458= |
| XM_011541313.1:c.1334G= | XP_011539615.1:p.Arg445= |
| XM_011541313.2:c.1334G= | XP_011539615.1:p.Arg445= |