Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665569C>A , CM000685.2:g.100665569C>A | GRCh38 |
| NC_000023.10:g.99920566C>A , CM000685.1:g.99920566C>A | GRCh37 |
| NC_000023.9:g.99807222C>A | NCBI36 |
| NG_021337.1:g.26404C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.693C>A MANE Select | NP_055282.1:p.His231Gln |
| ENST00000373004.5:c.693C>A MANE Select | ENSP00000362095.3:p.His231Gln |
| NM_014467.2:c.693C>A | NP_055282.1:p.His231Gln |
| ENST00000373004.3:c.693C>A | ENSP00000362095.3:p.His231Gln |
| ENST00000638458.1:c.717C>A | ENSP00000492168.1:p.His239Gln |
| ENST00000638920.1:n.696C>A | |
| ENST00000677630.1:n.627C>A | |
| ENST00000679590.1:n.726C>A | |
| XM_005262121.2:c.693C>A | XP_005262178.1:p.His231Gln |