Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446812C>T , CM000663.2:g.68446812C>T | GRCh38 |
| NC_000001.10:g.68912495C>T , CM000663.1:g.68912495C>T | GRCh37 |
| NC_000001.9:g.68685083C>T | NCBI36 |
| NG_008472.1:g.8148G>A | |
| NG_008472.2:g.8148G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.143G>A MANE Select | NP_000320.1:p.Gly48Glu |
| ENST00000262340.6:c.143G>A MANE Select | ENSP00000262340.5:p.Gly48Glu |
| NM_000329.2:c.143G>A | NP_000320.1:p.Gly48Glu |
| ENST00000262340.5:c.143G>A | ENSP00000262340.5:p.Gly48Glu |
| XM_017002027.1:c.-32+1812G>A | XP_016857516.1:n.-32+1812G>A |