Linked Data
ClinVar Variation Id:
205621
dbSNP Id:
rs796052538
gnomAD v2:
15-45670645-G-C
gnomAD v3:
15-45378447-G-C
gnomAD v4:
15-45378447-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45378447G>C , CM000677.2:g.45378447G>C | GRCh38 |
| NC_000015.9:g.45670645G>C , CM000677.1:g.45670645G>C | GRCh37 |
| NC_000015.8:g.43457937G>C | NCBI36 |
| NG_011674.1:g.5336C>G | |
| NG_011674.2:g.28871C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.7C>G MANE Select | ENSP00000379895.3:p.Arg3Gly | |
| ENST00000674905.1:c.7C>G | ENSP00000502176.1:p.Arg3Gly | |
| ENST00000675158.1:c.7C>G | ENSP00000501737.1:p.Arg3Gly | |
| ENST00000675323.1:c.7C>G | ENSP00000502445.1:p.Arg3Gly | |
| ENST00000675974.1:n.98C>G | ||
| ENST00000676090.1:c.166C>G | ENSP00000501630.1:p.Arg56Gly | |
| ENST00000396659.7:c.7C>G | ENSP00000379895.3:p.Arg3Gly | |
| ENST00000558118.1:c.7C>G | ENSP00000452971.1:p.Arg3Gly | |
| ENST00000558163.1:c.7C>G | ENSP00000453781.1:p.Arg3Gly | |
| ENST00000558336.5:c.7C>G | ENSP00000454008.1:p.Arg3Gly | |
| ENST00000558362.5:n.98C>G | ||
| ENST00000560538.1:n.339-1628C>G | ||
| ENST00000561148.5:c.-318-1628C>G | ENSP00000453860.1:n.-318-1628C>G | |
| NM_001482.2:c.7C>G | NP_001473.1:p.Arg3Gly | |
| XM_011521450.1:c.118-1628C>G | XP_011519752.1:n.118-1628C>G | |
| XM_011521451.1:c.112-1628C>G | XP_011519753.1:n.112-1628C>G | |
| NM_001321015.1:c.-318-1628C>G | NP_001307944.1:n.-318-1628C>G | |
| NM_001482.3:c.7C>G MANE Select | NP_001473.1:p.Arg3Gly | |
| NM_001321015.2:c.-318-1628C>G | NP_001307944.1:n.-318-1628C>G |