Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624111C= , CM000679.2:g.41624111C= | GRCh38 |
| NC_000017.10:g.39780363C= , CM000679.1:g.39780363C= | GRCh37 |
| NC_000017.9:g.37033889C= | NCBI36 |
| NG_008625.1:g.5520G= | |
| NG_009090.2:g.167602G= , LRG_401:g.167602G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.399G= MANE Select | ENSP00000308452.8:p.Gln133= | |
| ENST00000311208.12:c.399G= | ENSP00000308452.8:p.Gln133= | |
| ENST00000463128.5:c.-217G= | ENSP00000468672.1:n.-217G= | |
| ENST00000491673.1:n.465G= | ||
| ENST00000493253.5:n.186G= | ||
| ENST00000540235.5:c.150G= | ENSP00000441751.2:p.Gln50= | |
| ENST00000577817.3:c.354G= | ENSP00000467418.1:p.Gln118= | |
| NM_000422.2:c.399G= | NP_000413.1:p.Gln133= | |
| NM_000422.3:c.399G= MANE Select | NP_000413.1:p.Gln133= |