Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192950C>T , CM000665.2:g.185192950C>T | GRCh38 |
| NC_000003.11:g.184910738C>T , CM000665.1:g.184910738C>T | GRCh37 |
| NC_000003.10:g.186393432C>T | NCBI36 |
| NG_015999.1:g.66149G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001966.4:c.1448G>A MANE Select | NP_001957.2:p.Arg483Gln |
| ENST00000231887.8:c.1448G>A MANE Select | ENSP00000231887.3:p.Arg483Gln |
| NM_001166415.1:c.1160G>A | NP_001159887.1:p.Arg387Gln |
| NM_001166415.2:c.1160G>A | NP_001159887.1:p.Arg387Gln |
| NM_001966.3:c.1448G>A | NP_001957.2:p.Arg483Gln |
| ENST00000231887.7:c.1448G>A | ENSP00000231887.3:p.Arg483Gln |
| ENST00000456310.5:c.1160G>A | ENSP00000387746.1:p.Arg387Gln |
| XM_006713525.1:c.824G>A | XP_006713588.1:p.Arg275Gln |
| XM_011512517.1:c.1160G>A | XP_011510819.1:p.Arg387Gln |