Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269978T>G , CM000668.2:g.31269978T>G | GRCh38 |
| NC_000006.11:g.31237755T>G , CM000668.1:g.31237755T>G | GRCh37 |
| NC_000006.10:g.31345734T>G | NCBI36 |
| NG_029422.2:g.7154A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1003A>C MANE Select | ENSP00000365402.5:p.Arg335= | |
| ENST00000376228.9:c.1003A>C | ENSP00000365402.5:p.Arg335= | |
| ENST00000376237.8:c.*590A>C | ENSP00000365412.4:n.*590A>C | |
| ENST00000383329.7:c.1003A>C | ENSP00000372819.3:p.Arg335= | |
| ENST00000470363.5:n.321A>C | ||
| ENST00000487245.5:n.1362A>C | ||
| NM_002117.5:c.1003A>C | NP_002108.4:p.Arg335= | |
| NM_002117.6:c.1003A>C MANE Select | NP_002108.4:p.Arg335= |