Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844787C>G , CM000678.2:g.28844787C>G | GRCh38 |
| NC_000016.9:g.28856108C>G , CM000678.1:g.28856108C>G | GRCh37 |
| NC_000016.8:g.28763609C>G | NCBI36 |
| NG_008964.1:g.6622G>C | |
| NG_029706.2:g.3188C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.595G>C MANE Select | NP_003312.3:p.Glu199Gln |
| ENST00000313511.8:c.595G>C MANE Select | ENSP00000322439.3:p.Glu199Gln |
| NM_001365360.1:c.595G>C | NP_001352289.1:p.Glu199Gln |
| NM_001365360.2:c.595G>C | NP_001352289.1:p.Glu199Gln |
| NM_003321.4:c.595G>C | NP_003312.3:p.Glu199Gln |
| ENST00000313511.7:c.595G>C | ENSP00000322439.3:p.Glu199Gln |
| ENST00000561644.1:n.133G>C | |
| ENST00000565012.1:c.*122G>C | ENSP00000455007.1:n.*122G>C |
| XM_011545928.1:c.595G>C | XP_011544230.1:p.Glu199Gln |