Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58498294G>T , CM000670.2:g.58498294G>T | GRCh38 |
| NC_000008.10:g.59410853G>T , CM000670.1:g.59410853G>T | GRCh37 |
| NC_000008.9:g.59573407G>T | NCBI36 |
| NG_007969.1:g.6869C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301645.4:c.256C>A MANE Select | ENSP00000301645.3:p.His86Asn | |
| ENST00000301645.3:c.256C>A | ENSP00000301645.3:p.His86Asn | |
| NM_000780.3:c.256C>A | NP_000771.2:p.His86Asn | |
| XM_011517476.1:c.256C>A | XP_011515778.1:p.His86Asn | |
| NM_000780.4:c.256C>A MANE Select | NP_000771.2:p.His86Asn |