Linked Data
ClinVar Variation Id:
508929
ClinVar RCV Id:
RCV000601020
dbSNP Id:
rs534052046
ExAC:
15:45670695 T / C
gnomAD v2:
15-45670695-T-C
gnomAD v3:
15-45378497-T-C
gnomAD v4:
15-45378497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45378497T>C , CM000677.2:g.45378497T>C | GRCh38 |
| NC_000015.9:g.45670695T>C , CM000677.1:g.45670695T>C | GRCh37 |
| NC_000015.8:g.43457987T>C | NCBI36 |
| NG_011674.1:g.5286A>G | |
| NG_011674.2:g.28821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.-44A>G MANE Select | ENSP00000379895.3:n.-44A>G | |
| ENST00000674905.1:c.-44A>G | ENSP00000502176.1:n.-44A>G | |
| ENST00000675158.1:c.-44A>G | ENSP00000501737.1:n.-44A>G | |
| ENST00000675323.1:c.-44A>G | ENSP00000502445.1:n.-44A>G | |
| ENST00000675974.1:n.48A>G | ||
| ENST00000676090.1:c.116A>G | ENSP00000501630.1:p.Gln39Arg | |
| ENST00000396659.7:c.-44A>G | ENSP00000379895.3:n.-44A>G | |
| ENST00000558163.1:c.-44A>G | ENSP00000453781.1:n.-44A>G | |
| ENST00000558336.5:c.-44A>G | ENSP00000454008.1:n.-44A>G | |
| ENST00000558362.5:n.48A>G | ||
| ENST00000560538.1:n.339-1678A>G | ||
| ENST00000561148.5:c.-318-1678A>G | ENSP00000453860.1:n.-318-1678A>G | |
| NM_001482.2:c.-44A>G | NP_001473.1:n.-44A>G | |
| XM_011521450.1:c.118-1678A>G | XP_011519752.1:n.118-1678A>G | |
| XM_011521451.1:c.112-1678A>G | XP_011519753.1:n.112-1678A>G | |
| NM_001321015.1:c.-318-1678A>G | NP_001307944.1:n.-318-1678A>G | |
| NM_001482.3:c.-44A>G MANE Select | NP_001473.1:n.-44A>G | |
| NM_001321015.2:c.-318-1678A>G | NP_001307944.1:n.-318-1678A>G |