Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373315G>C , CM000672.2:g.133373315G>C | GRCh38 |
| NC_000010.10:g.135186819G>C , CM000672.1:g.135186819G>C | GRCh37 |
| NC_000010.9:g.135036809G>C | NCBI36 |
| NG_042077.1:g.5090C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.19C>G MANE Select | ENSP00000357535.3:p.Leu7Val | |
| ENST00000368547.3:c.19C>G | ENSP00000357535.3:p.Leu7Val | |
| NM_004092.3:c.19C>G | NP_004083.3:p.Leu7Val | |
| XR_002956965.1:n.82C>G | ||
| NM_004092.4:c.19C>G MANE Select | NP_004083.3:p.Leu7Val |