Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446713C>A , CM000663.2:g.68446713C>A | GRCh38 |
| NC_000001.10:g.68912396C>A , CM000663.1:g.68912396C>A | GRCh37 |
| NC_000001.9:g.68684984C>A | NCBI36 |
| NG_008472.1:g.8247G>T | |
| NG_008472.2:g.8247G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.242G>T MANE Select | NP_000320.1:p.Arg81Ile |
| ENST00000262340.6:c.242G>T MANE Select | ENSP00000262340.5:p.Arg81Ile |
| NM_000329.2:c.242G>T | NP_000320.1:p.Arg81Ile |
| ENST00000262340.5:c.242G>T | ENSP00000262340.5:p.Arg81Ile |
| XM_017002027.1:c.-31-1830G>T | XP_016857516.1:n.-31-1830G>T |