Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33670403C>G , CM000668.2:g.33670403C>G | GRCh38 |
| NC_000006.11:g.33638180C>G , CM000668.1:g.33638180C>G | GRCh37 |
| NC_000006.10:g.33746158C>G | NCBI36 |
| NG_027729.1:g.54025C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002224.4:c.2268C>G MANE Select | NP_002215.2:p.Gly756= |
| ENST00000605930.3:c.2268C>G MANE Select | ENSP00000475177.1:p.Gly756= |
| NM_002224.3:c.2268C>G | NP_002215.2:p.Gly756= |
| ENST00000374316.9:c.2268C>G | ENSP00000363435.4:p.Gly756= |
| ENST00000605930.2:c.2268C>G | ENSP00000475177.1:p.Gly756= |
| XM_011514576.1:c.2337C>G | XP_011512878.1:p.Gly779= |
| XM_011514577.1:c.2085C>G | XP_011512879.1:p.Gly695= |
| XM_011514577.3:c.2085C>G | XP_011512879.1:p.Gly695= |
| XM_017010832.1:c.2268C>G | XP_016866321.1:p.Gly756= |