Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85489515A>G , CM000668.2:g.85489515A>G | GRCh38 |
| NC_000006.11:g.86199233A>G , CM000668.1:g.86199233A>G | GRCh37 |
| NC_000006.10:g.86255952A>G | NCBI36 |
| NG_028214.1:g.44932A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002526.4:c.1126A>G MANE Select | NP_002517.1:p.Thr376Ala |
| ENST00000257770.8:c.1126A>G MANE Select | ENSP00000257770.3:p.Thr376Ala |
| NM_001204813.1:c.1126A>G | NP_001191742.1:p.Thr376Ala |
| NM_001204813.2:c.1126A>G | NP_001191742.1:p.Thr376Ala |
| NM_002526.3:c.1126A>G | NP_002517.1:p.Thr376Ala |
| ENST00000257770.7:c.1126A>G | ENSP00000257770.3:p.Thr376Ala |
| ENST00000369651.7:c.1126A>G | ENSP00000358665.3:p.Thr376Ala |
| ENST00000416334.5:c.420A>G | |
| ENST00000437581.1:c.213A>G |