Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624480G= , CM000679.2:g.41624480G= | GRCh38 |
| NC_000017.10:g.39780732G= , CM000679.1:g.39780732G= | GRCh37 |
| NC_000017.9:g.37034258G= | NCBI36 |
| NG_008625.1:g.5151C= | |
| NG_009090.2:g.167233C= , LRG_401:g.167233C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.30C= MANE Select | ENSP00000308452.8:p.Ser10= | |
| ENST00000311208.12:c.30C= | ENSP00000308452.8:p.Ser10= | |
| ENST00000463128.5:c.-313+263C= | ENSP00000468672.1:n.-313+263C= | |
| ENST00000491673.1:n.96C= | ||
| ENST00000540235.5:c.-176C= | ENSP00000441751.2:n.-176C= | |
| NM_000422.2:c.30C= | NP_000413.1:p.Ser10= | |
| NM_000422.3:c.30C= MANE Select | NP_000413.1:p.Ser10= |