Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73386117C>A , CM000664.2:g.73386117C>A | GRCh38 |
| NC_000002.11:g.73613245C>A , CM000664.1:g.73613245C>A | GRCh37 |
| NC_000002.10:g.73466753C>A | NCBI36 |
| NG_011690.1:g.5363C>A , LRG_741:g.5363C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.249C>A MANE Select | NP_001365383.1:p.His83Gln |
| ENST00000613296.6:c.249C>A MANE Select | ENSP00000482968.1:p.His83Gln |
| NM_015120.4:c.252C>A , LRG_741t1:c.252C>A | NP_055935.4:p.His84Gln |
| ENST00000484298.5:c.249C>A | ENSP00000478155.1:p.His83Gln |
| ENST00000613296.4:c.249C>A | ENSP00000482968.1:p.His83Gln |
| ENST00000614410.4:c.249C>A | ENSP00000479094.1:p.His83Gln |
| ENST00000682675.1:n.209C>A | |
| ENST00000682889.1:n.214C>A | |
| ENST00000684148.1:n.121C>A |