Linked Data
ClinVar Variation Id:
30989
dbSNP Id:
rs387907078
ExAC:
20:31022712 C / T
gnomAD v2:
20-31022712-C-T
gnomAD v3:
20-32434909-C-T
gnomAD v4:
20-32434909-C-T
MyVariant Identifiers:
chr20:g.31022712C>T (hg19)
chr20:g.31022712_31022713delinsTA (hg19)
chr20:g.32434909C>T (hg38)
PubMed:
PMID:21706002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32434909C>T , CM000682.2:g.32434909C>T | GRCh38 |
| NC_000020.10:g.31022712C>T , CM000682.1:g.31022712C>T | GRCh37 |
| NC_000020.9:g.30486373C>T | NCBI36 |
| NG_027868.1:g.81566C>T , LRG_630:g.81566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.2197C>T MANE Select | ENSP00000364839.4:p.Gln733Ter | |
| ENST00000646985.1:c.2014C>T | ENSP00000495053.1:p.Gln672Ter | |
| ENST00000647223.1:n.4550C>T | ||
| ENST00000651418.1:c.1869+328C>T | ENSP00000499150.1:n.1869+328C>T | |
| ENST00000306058.9:c.2182C>T | ENSP00000305119.5:p.Gln728Ter | |
| ENST00000375687.8:c.2197C>T | ENSP00000364839.4:p.Gln733Ter | |
| ENST00000613218.4:c.2197C>T | ENSP00000480487.1:p.Gln733Ter | |
| ENST00000620121.4:c.2197C>T | ENSP00000481978.1:p.Gln733Ter | |
| NM_015338.5:c.2197C>T , LRG_630t1:c.2197C>T | NP_056153.2:p.Gln733Ter | |
| XM_006723727.2:c.2194C>T | XP_006723790.1:p.Gln732Ter | |
| XM_006723728.2:c.2167C>T | XP_006723791.1:p.Gln723Ter | |
| XM_006723730.2:c.2113C>T | XP_006723793.1:p.Gln705Ter | |
| XM_006723732.2:c.2014C>T | XP_006723795.1:p.Gln672Ter | |
| XM_006723733.1:c.1513C>T | XP_006723796.1:p.Gln505Ter | |
| XM_011528647.1:c.2461C>T | XP_011526949.1:p.Gln821Ter | |
| XM_011528648.1:c.2458C>T | XP_011526950.1:p.Gln820Ter | |
| XM_011528649.1:c.2377C>T | XP_011526951.1:p.Gln793Ter | |
| XM_011528650.1:c.2308C>T | XP_011526952.1:p.Gln770Ter | |
| XM_011528651.1:c.2176C>T | XP_011526953.1:p.Gln726Ter | |
| XM_011528652.1:c.2113C>T | XP_011526954.1:p.Gln705Ter | |
| NM_001363734.1:c.2014C>T | NP_001350663.1:p.Gln672Ter | |
| XM_006723727.3:c.2194C>T | XP_006723790.1:p.Gln732Ter | |
| XM_006723728.3:c.2167C>T | XP_006723791.1:p.Gln723Ter | |
| XM_006723730.4:c.2113C>T | XP_006723793.1:p.Gln705Ter | |
| XM_011528648.3:c.2458C>T | XP_011526950.1:p.Gln820Ter | |
| XM_011528652.2:c.2113C>T | XP_011526954.1:p.Gln705Ter | |
| XM_017027704.1:c.2113C>T | XP_016883193.1:p.Gln705Ter | |
| XM_017027705.1:c.2113C>T | XP_016883194.1:p.Gln705Ter | |
| XM_017027706.1:c.2044C>T | XP_016883195.1:p.Gln682Ter | |
| NM_015338.6:c.2197C>T MANE Select | NP_056153.2:p.Gln733Ter |