Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028829C>T , CM000666.2:g.52028829C>T | GRCh38 |
| NC_000004.11:g.52894995C>T , CM000666.1:g.52894995C>T | GRCh37 |
| NC_000004.10:g.52589752C>T | NCBI36 |
| NG_008891.1:g.14491G>A , LRG_204:g.14491G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.522G>A MANE Select | NP_000223.1:p.Arg174= |
| ENST00000381431.10:c.522G>A MANE Select | ENSP00000370839.6:p.Arg174= |
| NM_000232.4:c.522G>A , LRG_204t1:c.522G>A | NP_000223.1:p.Arg174= |
| ENST00000381431.9:c.522G>A | ENSP00000370839.5:p.Arg174= |
| ENST00000506357.5:c.605G>A | |
| ENST00000514133.1:c.599G>A | ENSP00000425818.1:n.599G>A |
| XM_006714049.2:c.225G>A | XP_006714112.1:p.Arg75= |
| XM_011534403.1:c.312G>A | XP_011532705.1:p.Arg104= |
| XM_011534404.1:c.225G>A | XP_011532706.1:p.Arg75= |