Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034405A>C , CM000672.2:g.123034405A>C | GRCh38 |
| NC_000010.10:g.124793921A>C , CM000672.1:g.124793921A>C | GRCh37 |
| NC_000010.9:g.124783911A>C | NCBI36 |
| NG_008003.1:g.30493A>C , LRG_451:g.30493A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.92A>C MANE Select | ENSP00000357873.3:p.His31Pro | |
| ENST00000358776.6:c.92A>C | ENSP00000357873.3:p.His31Pro | |
| ENST00000368869.8:c.-114A>C | ENSP00000357862.4:n.-114A>C | |
| ENST00000411816.2:n.109A>C | ||
| NM_001609.3:c.92A>C , LRG_451t1:c.92A>C | NP_001600.1:p.His31Pro | |
| NM_001330174.1:c.-114A>C | NP_001317103.1:n.-114A>C | |
| NM_001330174.2:c.-114A>C | NP_001317103.1:n.-114A>C | |
| NM_001609.4:c.92A>C MANE Select | NP_001600.1:p.His31Pro | |
| NM_001330174.3:c.-114A>C | NP_001317103.1:n.-114A>C |