Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624395A= , CM000679.2:g.41624395A= | GRCh38 |
| NC_000017.10:g.39780647A= , CM000679.1:g.39780647A= | GRCh37 |
| NC_000017.9:g.37034173A= | NCBI36 |
| NG_008625.1:g.5236T= | |
| NG_009090.2:g.167318T= , LRG_401:g.167318T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.115T= MANE Select | ENSP00000308452.8:p.Ser39= | |
| ENST00000311208.12:c.115T= | ENSP00000308452.8:p.Ser39= | |
| ENST00000463128.5:c.-312-189T= | ENSP00000468672.1:n.-312-189T= | |
| ENST00000491673.1:n.181T= | ||
| ENST00000540235.5:c.-91T= | ENSP00000441751.2:n.-91T= | |
| ENST00000577817.3:c.70T= | ENSP00000467418.1:p.Ser24= | |
| NM_000422.2:c.115T= | NP_000413.1:p.Ser39= | |
| NM_000422.3:c.115T= MANE Select | NP_000413.1:p.Ser39= |