Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624375A= , CM000679.2:g.41624375A= | GRCh38 |
| NC_000017.10:g.39780627A= , CM000679.1:g.39780627A= | GRCh37 |
| NC_000017.9:g.37034153A= | NCBI36 |
| NG_008625.1:g.5256T= | |
| NG_009090.2:g.167338T= , LRG_401:g.167338T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.135T= MANE Select | ENSP00000308452.8:p.Ala45= | |
| ENST00000311208.12:c.135T= | ENSP00000308452.8:p.Ala45= | |
| ENST00000463128.5:c.-312-169T= | ENSP00000468672.1:n.-312-169T= | |
| ENST00000491673.1:n.201T= | ||
| ENST00000540235.5:c.-71T= | ENSP00000441751.2:n.-71T= | |
| ENST00000577817.3:c.90T= | ENSP00000467418.1:p.Ala30= | |
| NM_000422.2:c.135T= | NP_000413.1:p.Ala45= | |
| NM_000422.3:c.135T= MANE Select | NP_000413.1:p.Ala45= |