Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027977C>T , CM000666.2:g.52027977C>T | GRCh38 |
| NC_000004.11:g.52894143C>T , CM000666.1:g.52894143C>T | GRCh37 |
| NC_000004.10:g.52588900C>T | NCBI36 |
| NG_008891.1:g.15343G>A , LRG_204:g.15343G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.744G>A MANE Select | NP_000223.1:p.Glu248= |
| ENST00000381431.10:c.744G>A MANE Select | ENSP00000370839.6:p.Glu248= |
| NM_000232.4:c.744G>A , LRG_204t1:c.744G>A | NP_000223.1:p.Glu248= |
| ENST00000381431.9:c.744G>A | ENSP00000370839.5:p.Glu248= |
| XM_006714049.2:c.447G>A | XP_006714112.1:p.Glu149= |
| XM_011534403.1:c.534G>A | XP_011532705.1:p.Glu178= |
| XM_011534404.1:c.447G>A | XP_011532706.1:p.Glu149= |