Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70524911C>A , CM000666.2:g.70524911C>A | GRCh38 |
| NC_000004.11:g.71390628C>A , CM000666.1:g.71390628C>A | GRCh37 |
| NC_000004.10:g.71425217C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_212557.4:c.244C>A MANE Select | NP_997722.1:p.His82Asn |
| ENST00000339336.9:c.244C>A MANE Select | ENSP00000341013.4:p.His82Asn |
| NM_001286731.1:c.241C>A | NP_001273660.1:p.His81Asn |
| NM_001286731.2:c.241C>A | NP_001273660.1:p.His81Asn |
| NM_212557.3:c.244C>A | NP_997722.1:p.His82Asn |
| ENST00000339336.8:c.244C>A | ENSP00000341013.4:p.His82Asn |
| ENST00000504451.1:c.241C>A | ENSP00000422452.1:p.His81Asn |