Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444632C= , CM000663.2:g.68444632C= | GRCh38 |
| NC_000001.10:g.68910315C= , CM000663.1:g.68910315C= | GRCh37 |
| NC_000001.9:g.68682903C= | NCBI36 |
| NG_008472.1:g.10328G= | |
| NG_008472.2:g.10328G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.394G= MANE Select | NP_000320.1:p.Ala132= |
| ENST00000262340.6:c.394G= MANE Select | ENSP00000262340.5:p.Ala132= |
| NM_000329.2:c.394G= | NP_000320.1:p.Ala132= |
| ENST00000262340.5:c.394G= | ENSP00000262340.5:p.Ala132= |
| XM_017002027.1:c.118G= | XP_016857516.1:p.Ala40= |