Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23117544G>C , CM000676.2:g.23117544G>C | GRCh38 |
| NC_000014.8:g.23586753G>C , CM000676.1:g.23586753G>C | GRCh37 |
| NC_000014.7:g.22656593G>C | NCBI36 |
| NG_009617.1:g.6722C>G , LRG_45:g.6722C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.758C>G | ||
| ENST00000696122.1:n.535C>G | ||
| ENST00000206513.6:c.789C>G MANE Select | ENSP00000206513.5:p.Leu263= | |
| ENST00000206513.5:c.789C>G | ENSP00000206513.5:p.Leu263= | |
| NM_001805.3:c.789C>G | NP_001796.2:p.Leu263= | |
| XM_011536359.1:c.744C>G | XP_011534661.1:p.Leu248= | |
| NM_001805.4:c.789C>G MANE Select | NP_001796.2:p.Leu263= |