Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123040619C>A , CM000672.2:g.123040619C>A | GRCh38 |
| NC_000010.10:g.124800135C>A , CM000672.1:g.124800135C>A | GRCh37 |
| NC_000010.9:g.124790125C>A | NCBI36 |
| NG_008003.1:g.36707C>A , LRG_451:g.36707C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.457C>A MANE Select | ENSP00000357873.3:p.His153Asn | |
| ENST00000358776.6:c.457C>A | ENSP00000357873.3:p.His153Asn | |
| ENST00000368869.8:c.151C>A | ENSP00000357862.4:p.His51Asn | |
| ENST00000411816.2:n.474C>A | ||
| NM_001609.3:c.457C>A , LRG_451t1:c.457C>A | NP_001600.1:p.His153Asn | |
| NM_001330174.1:c.151C>A | NP_001317103.1:p.His51Asn | |
| NM_001330174.2:c.151C>A | NP_001317103.1:p.His51Asn | |
| NM_001609.4:c.457C>A MANE Select | NP_001600.1:p.His153Asn | |
| NM_001330174.3:c.151C>A | NP_001317103.1:p.His51Asn |