Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176804A>C , CM000674.2:g.21176804A>C | GRCh38 |
| NC_000012.11:g.21329738A>C , CM000674.1:g.21329738A>C | GRCh37 |
| NC_000012.10:g.21221005A>C | NCBI36 |
| NG_011745.1:g.50611A>C , LRG_1022:g.50611A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.388A>C MANE Select | ENSP00000256958.2:p.Asn130His | |
| ENST00000256958.2:c.388A>C | ENSP00000256958.2:p.Asn130His | |
| ENST00000543498.5:c.454A>C | ||
| NM_006446.4:c.388A>C , LRG_1022t1:c.388A>C | NP_006437.3:p.Asn130His | |
| NM_006446.5:c.388A>C MANE Select | NP_006437.3:p.Asn130His |