Linked Data
ClinVar Variation Id:
314839
dbSNP Id:
rs35973343
ExAC:
14:90499510 A / G
gnomAD v2:
14-90499510-A-G
gnomAD v3:
14-90033166-A-G
gnomAD v4:
14-90033166-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90033166A>G , CM000676.2:g.90033166A>G | GRCh38 |
| NC_000014.8:g.90499510A>G , CM000676.1:g.90499510A>G | GRCh37 |
| NC_000014.7:g.89569263A>G | NCBI36 |
| NG_009164.1:g.82265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335725.9:c.1705A>G MANE Select | ENSP00000337353.4:p.Thr569Ala | |
| ENST00000335725.8:c.1705A>G | ENSP00000337353.4:p.Thr569Ala | |
| ENST00000393452.7:c.1751A>G | ENSP00000377098.3:p.His584Arg | |
| ENST00000393454.6:c.1705A>G | ENSP00000377099.2:p.Thr569Ala | |
| ENST00000545686.6:c.*1028A>G | ENSP00000444587.2:n.*1028A>G | |
| ENST00000554976.5:c.*1264A>G | ENSP00000452042.1:n.*1264A>G | |
| ENST00000555178.5:c.*890A>G | ENSP00000452363.1:n.*890A>G | |
| ENST00000555880.5:c.1645-9904A>G | ENSP00000450628.1:n.1645-9904A>G | |
| ENST00000556063.1:c.626A>G | ||
| NM_001008744.1:c.1705A>G | NP_001008744.1:p.Thr569Ala | |
| NM_018319.3:c.1705A>G | NP_060789.2:p.Thr569Ala | |
| XM_005267847.2:c.1705A>G | XP_005267904.1:p.Thr569Ala | |
| XM_005267848.1:c.1705A>G | XP_005267905.1:p.Thr569Ala | |
| XM_006720197.2:c.1705A>G | XP_006720260.1:p.Thr569Ala | |
| XM_006720198.2:c.1705A>G | XP_006720261.1:p.Thr569Ala | |
| XM_006720199.1:c.910A>G | XP_006720262.1:p.Thr304Ala | |
| XM_006720200.2:c.910A>G | XP_006720263.1:p.Thr304Ala | |
| XM_011536941.1:c.1705A>G | XP_011535243.1:p.Thr569Ala | |
| XM_011536942.1:c.1705A>G | XP_011535244.1:p.Thr569Ala | |
| XM_011536943.1:c.1705A>G | XP_011535245.1:p.Thr569Ala | |
| XM_011536944.1:c.1645-9904A>G | XP_011535246.1:n.1645-9904A>G | |
| NM_001330205.1:c.1645-9904A>G | NP_001317134.1:n.1645-9904A>G | |
| XM_005267848.3:c.1705A>G | XP_005267905.1:p.Thr569Ala | |
| XM_006720197.4:c.1705A>G | XP_006720260.1:p.Thr569Ala | |
| XM_011536942.3:c.1705A>G | XP_011535244.1:p.Thr569Ala | |
| XM_011536944.2:c.1645-9904A>G | XP_011535246.1:n.1645-9904A>G | |
| XM_017021439.2:c.1705A>G | XP_016876928.1:p.Thr569Ala | |
| XM_017021440.2:c.1645-9904A>G | XP_016876929.1:n.1645-9904A>G | |
| XM_024449649.1:c.1831A>G | XP_024305417.1:p.Thr611Ala | |
| XM_024449650.1:c.1831A>G | XP_024305418.1:p.Thr611Ala | |
| XM_024449651.1:c.1831A>G | XP_024305419.1:p.Thr611Ala | |
| XM_024449652.1:c.1831A>G | XP_024305420.1:p.Thr611Ala | |
| XM_024449653.1:c.1831A>G | XP_024305421.1:p.Thr611Ala | |
| XM_024449654.1:c.1831A>G | XP_024305422.1:p.Thr611Ala | |
| XM_024449655.1:c.1831A>G | XP_024305423.1:p.Thr611Ala | |
| XM_024449656.1:c.1831A>G | XP_024305424.1:p.Thr611Ala | |
| XM_024449657.1:c.988A>G | XP_024305425.1:p.Thr330Ala | |
| XM_024449658.1:c.988A>G | XP_024305426.1:p.Thr330Ala | |
| XM_024449659.1:c.928-9904A>G | XP_024305427.1:n.928-9904A>G | |
| XR_001750427.2:n.1935A>G | ||
| XR_943492.3:n.2209A>G | ||
| NM_001008744.2:c.1705A>G | NP_001008744.1:p.Thr569Ala | |
| NM_001330205.2:c.1645-9904A>G | NP_001317134.1:n.1645-9904A>G | |
| NM_018319.4:c.1705A>G MANE Select | NP_060789.2:p.Thr569Ala |