Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034371C>G , CM000672.2:g.123034371C>G | GRCh38 |
| NC_000010.10:g.124793887C>G , CM000672.1:g.124793887C>G | GRCh37 |
| NC_000010.9:g.124783877C>G | NCBI36 |
| NG_008003.1:g.30459C>G , LRG_451:g.30459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.58C>G MANE Select | ENSP00000357873.3:p.Leu20Val | |
| ENST00000358776.6:c.58C>G | ENSP00000357873.3:p.Leu20Val | |
| ENST00000368869.8:c.-148C>G | ENSP00000357862.4:n.-148C>G | |
| ENST00000411816.2:n.75C>G | ||
| NM_001609.3:c.58C>G , LRG_451t1:c.58C>G | NP_001600.1:p.Leu20Val | |
| NM_001330174.1:c.-148C>G | NP_001317103.1:n.-148C>G | |
| NM_001330174.2:c.-148C>G | NP_001317103.1:n.-148C>G | |
| NM_001609.4:c.58C>G MANE Select | NP_001600.1:p.Leu20Val | |
| NM_001330174.3:c.-148C>G | NP_001317103.1:n.-148C>G |