Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157211329C>G , CM000667.2:g.157211329C>G | GRCh38 |
| NC_000005.9:g.156638340C>G , CM000667.1:g.156638340C>G | GRCh37 |
| NC_000005.8:g.156570918C>G | NCBI36 |
| NG_016276.1:g.35434C>G , LRG_189:g.35434C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005546.4:c.286C>G MANE Select | NP_005537.3:p.Arg96Gly |
| ENST00000422843.8:c.286C>G MANE Select | ENSP00000398655.4:p.Arg96Gly |
| NM_005546.3:c.286C>G , LRG_189t1:c.286C>G | NP_005537.3:p.Arg96Gly |
| ENST00000422843.7:c.286C>G | ENSP00000398655.3:p.Arg96Gly |
| ENST00000517779.1:c.286C>G | ENSP00000431054.1:p.Arg96Gly |
| ENST00000519402.5:n.421C>G | |
| ENST00000520555.5:n.424C>G | |
| ENST00000521769.5:c.-90C>G | ENSP00000430327.1:n.-90C>G |
| ENST00000696962.1:c.286C>G | ENSP00000513001.1:p.Arg96Gly |