Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624204C= , CM000679.2:g.41624204C= | GRCh38 |
| NC_000017.10:g.39780456C= , CM000679.1:g.39780456C= | GRCh37 |
| NC_000017.9:g.37033982C= | NCBI36 |
| NG_008625.1:g.5427G= | |
| NG_009090.2:g.167509G= , LRG_401:g.167509G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.306G= MANE Select | ENSP00000308452.8:p.Val102= | |
| ENST00000311208.12:c.306G= | ENSP00000308452.8:p.Val102= | |
| ENST00000463128.5:c.-310G= | ENSP00000468672.1:n.-310G= | |
| ENST00000491673.1:n.372G= | ||
| ENST00000493253.5:n.93G= | ||
| ENST00000540235.5:c.72-13G= | ENSP00000441751.2:n.72-13G= | |
| ENST00000577817.3:c.261G= | ENSP00000467418.1:p.Val87= | |
| NM_000422.2:c.306G= | NP_000413.1:p.Val102= | |
| NM_000422.3:c.306G= MANE Select | NP_000413.1:p.Val102= |