Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377021C= , CM000664.2:g.47377021C= | GRCh38 |
| NC_000002.11:g.47604160C= , CM000664.1:g.47604160C= | GRCh37 |
| NC_000002.10:g.47457664C= | NCBI36 |
| NG_012352.2:g.36859C= , LRG_215:g.36859C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.499C= MANE Select | NP_002345.2:p.Gln167= |
| ENST00000263735.9:c.499C= MANE Select | ENSP00000263735.4:p.Gln167= |
| NM_002354.2:c.499C= , LRG_215t1:c.499C= | NP_002345.2:p.Gln167= |
| ENST00000263735.8:c.499C= | ENSP00000263735.4:p.Gln167= |
| ENST00000405271.5:c.583C= | ENSP00000385476.1:p.Gln195= |
| ENST00000456133.5:c.583C= | ENSP00000410675.1:p.Gln195= |
| ENST00000490733.1:n.348C= |