Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787492C>G , CM000686.2:g.2787492C>G | GRCh38 |
| NC_000024.9:g.2655533C>G , CM000686.1:g.2655533C>G | GRCh37 |
| NC_000024.8:g.2715533C>G | NCBI36 |
| NG_011751.1:g.5260G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+12753C>G | ||
| ENST00000679825.1:n.604C>G | ||
| ENST00000680285.1:n.320-2257C>G | ||
| ENST00000680845.1:n.178C>G | ||
| ENST00000681787.1:n.106+12753C>G | ||
| ENST00000681940.1:n.106+12753C>G | ||
| ENST00000383070.2:c.112G>C MANE Select | ENSP00000372547.1:p.Glu38Gln | |
| ENST00000383070.1:c.112G>C | ENSP00000372547.1:p.Glu38Gln | |
| NM_003140.2:c.112G>C | NP_003131.1:p.Glu38Gln | |
| NM_003140.3:c.112G>C MANE Select | NP_003131.1:p.Glu38Gln |