Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73981582A>G , CM000670.2:g.73981582A>G | GRCh38 |
| NC_000008.10:g.74893817A>G , CM000670.1:g.74893817A>G | GRCh37 |
| NC_000008.9:g.75056371A>G | NCBI36 |
| NG_016618.1:g.10441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312184.6:c.744A>G MANE Select | ENSP00000312599.5:p.Glu248= | |
| ENST00000312184.5:c.744A>G | ENSP00000312599.5:p.Glu248= | |
| ENST00000416961.6:c.*501A>G | ENSP00000407695.2:n.*501A>G | |
| NM_001040613.2:c.*434A>G | NP_001035703.1:n.*434A>G | |
| NM_017866.5:c.744A>G | NP_060336.3:p.Glu248= | |
| NR_033334.1:n.977A>G | ||
| NM_017866.6:c.744A>G MANE Select | NP_060336.3:p.Glu248= | |
| NM_001040613.3:c.*434A>G | NP_001035703.1:n.*434A>G | |
| NR_033334.2:n.924A>G |