Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59272910G>C , CM000680.2:g.59272910G>C | GRCh38 |
| NC_000018.9:g.56940142G>C , CM000680.1:g.56940142G>C | GRCh37 |
| NC_000018.8:g.55091122G>C | NCBI36 |
| NG_013031.1:g.5484C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013435.3:c.289+8C>G MANE Select | NP_038463.2:n.289+8C>G |
| ENST00000334889.4:c.289+8C>G MANE Select | ENSP00000334813.3:n.289+8C>G |
| NM_013435.2:c.289+8C>G | NP_038463.2:n.289+8C>G |
| ENST00000256852.7:c.289+8C>G | ENSP00000256852.7:n.289+8C>G |
| ENST00000334889.3:c.289+8C>G | ENSP00000334813.3:n.289+8C>G |
| ENST00000591550.1:n.11C>G |