Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48858526C>T , CM000665.2:g.48858526C>T | GRCh38 |
| NC_000003.11:g.48895959C>T , CM000665.1:g.48895959C>T | GRCh37 |
| NC_000003.10:g.48870963C>T | NCBI36 |
| NG_008171.1:g.45371G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.824G>A MANE Select | NP_000378.1:p.Arg275Gln |
| ENST00000319017.5:c.824G>A MANE Select | ENSP00000326305.4:p.Arg275Gln |
| NM_000387.5:c.824G>A | NP_000378.1:p.Arg275Gln |
| ENST00000319017.4:c.824G>A | ENSP00000326305.4:p.Arg275Gln |
| ENST00000430379.5:c.605G>A | ENSP00000388986.1:p.Arg202Gln |
| ENST00000440964.1:c.*654G>A | ENSP00000388563.1:n.*654G>A |
| ENST00000479050.1:n.143G>A | |
| XM_006713327.1:c.536-754G>A | XP_006713390.1:n.536-754G>A |