Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63150260C>G , CM000674.2:g.63150260C>G | GRCh38 |
| NC_000012.11:g.63544040C>G , CM000674.1:g.63544040C>G | GRCh37 |
| NC_000012.10:g.61830307C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000706.5:c.577G>C MANE Select | NP_000697.1:p.Glu193Gln |
| ENST00000299178.4:c.577G>C MANE Select | ENSP00000299178.3:p.Glu193Gln |
| NM_000706.4:c.577G>C | NP_000697.1:p.Glu193Gln |
| ENST00000299178.3:c.577G>C | ENSP00000299178.2:p.Glu193Gln |
| XM_005269002.3:c.586G>C | XP_005269059.1:p.Glu196Gln |