Linked Data
ClinVar Variation Id:
6740
dbSNP Id:
rs121908943
ExAC:
20:31388006 G / A
gnomAD v2:
20-31388006-G-A
gnomAD v4:
20-32800200-G-A
PubMed:
PMID:10555141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800200G>A , CM000682.2:g.32800200G>A | GRCh38 |
| NC_000020.10:g.31388006G>A , CM000682.1:g.31388006G>A | GRCh37 |
| NC_000020.9:g.30851667G>A | NCBI36 |
| NG_007290.1:g.42816G>A , LRG_56:g.42816G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696231.1:c.*758G>A | ENSP00000512497.1:n.*758G>A | |
| ENST00000696232.1:c.1807G>A | ENSP00000512498.1:p.Ala603Thr | |
| ENST00000696233.1:c.*550G>A | ENSP00000512499.1:n.*550G>A | |
| ENST00000696235.1:c.*455G>A | ENSP00000512500.1:n.*455G>A | |
| ENST00000696238.1:c.*550G>A | ENSP00000512502.1:n.*550G>A | |
| ENST00000696239.1:c.1588G>A | ENSP00000512503.1:p.Ala530Thr | |
| ENST00000201963.3:c.1783G>A | ENSP00000201963.3:p.Ala595Thr | |
| ENST00000328111.6:c.1807G>A MANE Select | ENSP00000328547.2:p.Ala603Thr | |
| ENST00000348286.6:c.1747G>A | ENSP00000337764.2:p.Ala583Thr | |
| ENST00000353855.6:c.1747G>A | ENSP00000313397.4:p.Ala583Thr | |
| ENST00000443239.7:c.1621G>A | ENSP00000403169.2:p.Ala541Thr | |
| ENST00000456297.6:c.1519G>A | ENSP00000412305.1:p.Ala507Thr | |
| NM_001207055.1:c.1621G>A | NP_001193984.1:p.Ala541Thr | |
| NM_001207056.1:c.1519G>A | NP_001193985.1:p.Ala507Thr | |
| NM_006892.3:c.1807G>A , LRG_56t1:c.1807G>A | NP_008823.1:p.Ala603Thr | |
| NM_175848.1:c.1747G>A | NP_787044.1:p.Ala583Thr | |
| NM_175849.1:c.1747G>A | NP_787045.1:p.Ala583Thr | |
| NM_175850.2:c.1783G>A | NP_787046.1:p.Ala595Thr | |
| XM_011528653.1:c.1783G>A | XP_011526955.1:p.Ala595Thr | |
| XM_011528654.1:c.1657G>A | XP_011526956.1:p.Ala553Thr | |
| XR_936510.1:n.1774G>A | ||
| XR_936511.1:n.1774G>A | ||
| XR_936512.1:n.1649G>A | ||
| XM_011528653.2:c.1783G>A | XP_011526955.1:p.Ala595Thr | |
| XM_011528654.2:c.1657G>A | XP_011526956.1:p.Ala553Thr | |
| XR_936510.2:n.1785G>A | ||
| XR_936511.2:n.1785G>A | ||
| XR_936512.2:n.1661G>A | ||
| NM_001207055.2:c.1621G>A | NP_001193984.1:p.Ala541Thr | |
| NM_001207056.2:c.1519G>A | NP_001193985.1:p.Ala507Thr | |
| NM_006892.4:c.1807G>A MANE Select | NP_008823.1:p.Ala603Thr | |
| NM_175848.2:c.1747G>A | NP_787044.1:p.Ala583Thr | |
| NM_175849.2:c.1747G>A | NP_787045.1:p.Ala583Thr | |
| NM_175850.3:c.1783G>A | NP_787046.1:p.Ala595Thr |