Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954881G>T , CM000673.2:g.86954881G>T | GRCh38 |
| NC_000011.9:g.86665923G>T , CM000673.1:g.86665923G>T | GRCh37 |
| NC_000011.8:g.86343571G>T | NCBI36 |
| NG_011752.1:g.5511C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.205C>A MANE Select | ENSP00000434034.1:p.His69Asn | |
| ENST00000531380.1:c.205C>A | ENSP00000434034.1:p.His69Asn | |
| NM_012193.3:c.205C>A | NP_036325.2:p.His69Asn | |
| NM_012193.4:c.205C>A MANE Select | NP_036325.2:p.His69Asn |