ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30751503C>G , CM000670.2:g.30751503C>G | GRCh38 |
| NC_000008.10:g.30609020C>G , CM000670.1:g.30609020C>G | GRCh37 |
| NC_000008.9:g.30728562C>G | NCBI36 |
| NG_033787.1:g.12339C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265616.10:c.196C>G MANE Select | ENSP00000479216.1:p.Gln66Glu | |
| ENST00000620074.5:c.316C>G | ENSP00000477532.1:p.Gln106Glu | |
| ENST00000265616.9:c.196C>G | ENSP00000479216.1:p.Gln66Glu | |
| ENST00000341403.9:c.196C>G | ENSP00000478502.1:p.Gln66Glu | |
| ENST00000380154.9:c.*250C>G | ENSP00000482772.1:n.*250C>G | |
| ENST00000518059.5:c.107C>G | ||
| ENST00000522968.1:c.730C>G | ENSP00000483433.1:p.Gln244Glu | |
| ENST00000615729.4:c.89-4C>G | ENSP00000481635.1:n.89-4C>G | |
| ENST00000620074.4:c.316C>G | ENSP00000477532.1:p.Gln106Glu | |
| NM_001282189.1:c.89-4C>G | NP_001269118.1:n.89-4C>G | |
| NM_001282199.1:c.196C>G | NP_001269128.1:p.Gln66Glu | |
| NM_005671.3:c.196C>G | NP_005662.1:p.Gln66Glu | |
| XM_011544655.1:c.367C>G | XP_011542957.1:p.Gln123Glu | |
| XM_011544655.2:c.367C>G | XP_011542957.1:p.Gln123Glu | |
| XM_017013862.1:c.-129C>G | XP_016869351.1:n.-129C>G | |
| NM_005671.4:c.196C>G MANE Select | NP_005662.2:p.Gln66Glu | |
| NM_001282189.2:c.89-4C>G | NP_001269118.1:n.89-4C>G | |
| NM_001282199.2:c.196C>G | NP_001269128.2:p.Gln66Glu |