Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28842995T>C , CM000678.2:g.28842995T>C | GRCh38 |
| NC_000016.9:g.28854316T>C , CM000678.1:g.28854316T>C | GRCh37 |
| NC_000016.8:g.28761817T>C | NCBI36 |
| NG_008964.1:g.8414A>G | |
| NG_029706.2:g.1396T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.1348A>G MANE Select | NP_003312.3:p.Lys450Glu |
| ENST00000313511.8:c.1348A>G MANE Select | ENSP00000322439.3:p.Lys450Glu |
| NM_001365360.1:c.1264A>G | NP_001352289.1:p.Lys422Glu |
| NM_001365360.2:c.1264A>G | NP_001352289.1:p.Lys422Glu |
| NM_003321.4:c.1348A>G | NP_003312.3:p.Lys450Glu |
| ENST00000313511.7:c.1348A>G | ENSP00000322439.3:p.Lys450Glu |
| ENST00000569217.1:n.657A>G | |
| XM_011545928.1:c.1264A>G | XP_011544230.1:p.Lys422Glu |