Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270003A>G , CM000668.2:g.31270003A>G | GRCh38 |
| NC_000006.11:g.31237780A>G , CM000668.1:g.31237780A>G | GRCh37 |
| NC_000006.10:g.31345759A>G | NCBI36 |
| NG_029422.2:g.7129T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.978T>C MANE Select | ENSP00000365402.5:p.Ala326= | |
| ENST00000376228.9:c.978T>C | ENSP00000365402.5:p.Ala326= | |
| ENST00000376237.8:c.*565T>C | ENSP00000365412.4:n.*565T>C | |
| ENST00000383329.7:c.978T>C | ENSP00000372819.3:p.Ala326= | |
| ENST00000470363.5:n.296T>C | ||
| ENST00000487245.5:n.1337T>C | ||
| NM_002117.5:c.978T>C | NP_002108.4:p.Ala326= | |
| NM_002117.6:c.978T>C MANE Select | NP_002108.4:p.Ala326= |