Linked Data
ClinVar Variation Id:
1952389
ClinVar RCV Id:
RCV002676939
MyVariant Identifiers:
chr22:g.29876356C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480367C>G , CM000684.2:g.29480367C>G | GRCh38 |
| NC_000022.10:g.29876356C>G , CM000684.1:g.29876356C>G | GRCh37 |
| NC_000022.9:g.28206356C>G | NCBI36 |
| NG_008404.1:g.5176C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.105C>G MANE Select | ENSP00000311997.6:p.Gly35= | |
| ENST00000310624.6:c.105C>G | ENSP00000311997.6:p.Gly35= | |
| NM_021076.3:c.105C>G | NP_066554.2:p.Gly35= | |
| XM_011530200.1:c.105C>G | XP_011528502.1:p.Gly35= | |
| XM_011530200.2:c.105C>G | XP_011528502.1:p.Gly35= | |
| NM_021076.4:c.105C>G MANE Select | NP_066554.2:p.Gly35= |