Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22033015G>C , CM000685.2:g.22033015G>C | GRCh38 |
| NC_000023.10:g.22051133G>C , CM000685.1:g.22051133G>C | GRCh37 |
| NC_000023.9:g.21961054G>C | NCBI36 |
| NG_007563.2:g.5213G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000444.6:c.10G>C MANE Select | NP_000435.3:p.Glu4Gln |
| ENST00000379374.5:c.10G>C MANE Select | ENSP00000368682.4:p.Glu4Gln |
| NM_000444.5:c.10G>C | NP_000435.3:p.Glu4Gln |
| NM_001282754.1:c.10G>C | NP_001269683.1:p.Glu4Gln |
| NM_001282754.2:c.10G>C | NP_001269683.1:p.Glu4Gln |
| ENST00000379374.4:c.10G>C | ENSP00000368682.4:p.Glu4Gln |
| ENST00000475778.2:n.436G>C | |
| ENST00000683214.1:n.436G>C | |
| ENST00000684143.1:c.10G>C | ENSP00000508264.1:p.Glu4Gln |
| XM_011545535.1:c.10G>C | XP_011543837.1:p.Glu4Gln |
| XR_001755695.1:n.689G>C |