Linked Data
ClinVar Variation Id:
338178
dbSNP Id:
rs17123655
ExAC:
20:31388077 C / T
gnomAD v2:
20-31388077-C-T
gnomAD v3:
20-32800271-C-T
gnomAD v4:
20-32800271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800271C>T , CM000682.2:g.32800271C>T | GRCh38 |
| NC_000020.10:g.31388077C>T , CM000682.1:g.31388077C>T | GRCh37 |
| NC_000020.9:g.30851738C>T | NCBI36 |
| NG_007290.1:g.42887C>T , LRG_56:g.42887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*829C>T | ENSP00000512497.1:n.*829C>T | |
| ENST00000696232.1:c.1878C>T | ENSP00000512498.1:p.Asn626= | |
| ENST00000696233.1:c.*621C>T | ENSP00000512499.1:n.*621C>T | |
| ENST00000696235.1:c.*526C>T | ENSP00000512500.1:n.*526C>T | |
| ENST00000696238.1:c.*621C>T | ENSP00000512502.1:n.*621C>T | |
| ENST00000696239.1:c.1659C>T | ENSP00000512503.1:p.Asn553= | |
| ENST00000201963.3:c.1854C>T | ENSP00000201963.3:p.Asn618= | |
| ENST00000328111.6:c.1878C>T MANE Select | ENSP00000328547.2:p.Asn626= | |
| ENST00000348286.6:c.1818C>T | ENSP00000337764.2:p.Asn606= | |
| ENST00000353855.6:c.1818C>T | ENSP00000313397.4:p.Asn606= | |
| ENST00000443239.7:c.1692C>T | ENSP00000403169.2:p.Asn564= | |
| ENST00000456297.6:c.1590C>T | ENSP00000412305.1:p.Asn530= | |
| NM_001207055.1:c.1692C>T | NP_001193984.1:p.Asn564= | |
| NM_001207056.1:c.1590C>T | NP_001193985.1:p.Asn530= | |
| NM_006892.3:c.1878C>T , LRG_56t1:c.1878C>T | NP_008823.1:p.Asn626= | |
| NM_175848.1:c.1818C>T | NP_787044.1:p.Asn606= | |
| NM_175849.1:c.1818C>T | NP_787045.1:p.Asn606= | |
| NM_175850.2:c.1854C>T | NP_787046.1:p.Asn618= | |
| XM_011528653.1:c.1854C>T | XP_011526955.1:p.Asn618= | |
| XM_011528654.1:c.1728C>T | XP_011526956.1:p.Asn576= | |
| XR_936510.1:n.1845C>T | ||
| XR_936511.1:n.1845C>T | ||
| XR_936512.1:n.1720C>T | ||
| XM_011528653.2:c.1854C>T | XP_011526955.1:p.Asn618= | |
| XM_011528654.2:c.1728C>T | XP_011526956.1:p.Asn576= | |
| XR_936510.2:n.1856C>T | ||
| XR_936511.2:n.1856C>T | ||
| XR_936512.2:n.1732C>T | ||
| NM_001207055.2:c.1692C>T | NP_001193984.1:p.Asn564= | |
| NM_001207056.2:c.1590C>T | NP_001193985.1:p.Asn530= | |
| NM_006892.4:c.1878C>T MANE Select | NP_008823.1:p.Asn626= | |
| NM_175848.2:c.1818C>T | NP_787044.1:p.Asn606= | |
| NM_175849.2:c.1818C>T | NP_787045.1:p.Asn606= | |
| NM_175850.3:c.1854C>T | NP_787046.1:p.Asn618= |