Linked Data
ClinVar Variation Id:
215223
dbSNP Id:
rs151249432
ExAC:
16:89616965 C / G
gnomAD v2:
16-89616965-C-G
gnomAD v3:
16-89550557-C-G
gnomAD v4:
16-89550557-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89550557C>G , CM000678.2:g.89550557C>G | GRCh38 |
| NC_000016.9:g.89616965C>G , CM000678.1:g.89616965C>G | GRCh37 |
| NC_000016.8:g.88144466C>G | NCBI36 |
| NG_008082.1:g.47161C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1706C>G | ENSP00000268704.3:p.Ser569Trp | |
| ENST00000561702.6:n.2399C>G | ||
| ENST00000566682.2:c.740C>G | ENSP00000461979.2:p.Ser247Trp | |
| ENST00000569820.6:c.2000C>G | ||
| ENST00000642226.1:n.1790C>G | ||
| ENST00000642334.1:c.3145C>G | ||
| ENST00000642814.1:n.1142C>G | ||
| ENST00000642984.1:n.1323C>G | ||
| ENST00000643105.1:c.2433C>G | ||
| ENST00000643350.1:n.1141C>G | ||
| ENST00000643409.1:n.2152C>G | ||
| ENST00000643496.1:n.1544C>G | ||
| ENST00000643649.1:c.1616C>G | ENSP00000494806.1:p.Ser539Trp | |
| ENST00000643668.1:c.*2021C>G | ENSP00000494903.1:n.*2021C>G | |
| ENST00000643724.1:c.*775C>G | ENSP00000496335.1:n.*775C>G | |
| ENST00000643954.1:c.2626C>G | ||
| ENST00000644171.1:n.2487C>G | ||
| ENST00000644210.1:c.*299C>G | ENSP00000495675.1:n.*299C>G | |
| ENST00000644225.1:n.1744C>G | ||
| ENST00000644464.1:n.380C>G | ||
| ENST00000644498.1:c.*1546C>G | ENSP00000496244.1:n.*1546C>G | |
| ENST00000644671.1:c.1384C>G | ||
| ENST00000644751.1:c.915C>G | ||
| ENST00000644781.1:c.1727C>G | ENSP00000495473.1:p.Ser576Trp | |
| ENST00000644901.1:c.*2121C>G | ENSP00000493797.1:n.*2121C>G | |
| ENST00000645042.1:c.*501C>G | ENSP00000493908.1:n.*501C>G | |
| ENST00000645063.1:c.1727C>G | ENSP00000493590.1:p.Ser576Trp | |
| ENST00000645354.1:c.2487C>G | ||
| ENST00000645392.1:n.2068C>G | ||
| ENST00000645742.1:n.361C>G | ||
| ENST00000645818.2:c.1727C>G MANE Select | ENSP00000495795.2:p.Ser576Trp | |
| ENST00000645842.1:n.1572C>G | ||
| ENST00000645886.1:c.1232C>G | ||
| ENST00000645897.1:c.1265C>G | ENSP00000495293.1:p.Ser422Trp | |
| ENST00000645952.1:n.1592C>G | ||
| ENST00000645977.1:n.2845C>G | ||
| ENST00000646005.1:n.1485C>G | ||
| ENST00000646263.1:c.*600C>G | ENSP00000494119.1:n.*600C>G | |
| ENST00000646303.1:c.1595C>G | ENSP00000494160.1:p.Ser532Trp | |
| ENST00000646399.1:c.2621C>G | ||
| ENST00000646445.1:c.585C>G | ||
| ENST00000646531.1:c.*350C>G | ENSP00000495185.1:n.*350C>G | |
| ENST00000646589.1:c.*855C>G | ENSP00000494739.1:n.*855C>G | |
| ENST00000646716.1:c.779C>G | ENSP00000495593.1:p.Ser260Trp | |
| ENST00000646826.1:c.*400C>G | ENSP00000495123.1:n.*400C>G | |
| ENST00000646930.1:c.*1656C>G | ENSP00000495219.1:n.*1656C>G | |
| ENST00000647032.1:c.1342C>G | ||
| ENST00000647079.1:c.1319C>G | ENSP00000495967.1:p.Ser440Trp | |
| ENST00000647123.1:n.1684C>G | ||
| ENST00000647227.1:c.1365C>G | ||
| ENST00000647302.1:n.2377C>G | ||
| ENST00000647476.1:n.614C>G | ||
| ENST00000647491.1:n.1471C>G | ||
| ENST00000268704.6:c.1727C>G | ENSP00000268704.2:p.Ser576Trp | |
| ENST00000561702.5:n.712C>G | ||
| ENST00000561911.5:c.272C>G | ENSP00000457387.1:p.Ser91Trp | |
| ENST00000565370.1:n.512C>G | ||
| ENST00000566221.5:c.581C>G | ||
| ENST00000568205.1:n.22C>G | ||
| ENST00000569820.5:c.969C>G | ||
| ENST00000620811.4:c.502C>G | ENSP00000478030.1:p.Arg168Gly | |
| NM_003119.3:c.1727C>G | NP_003110.1:p.Ser576Trp | |
| XM_006721264.2:c.1727C>G | XP_006721327.1:p.Ser576Trp | |
| NM_001363850.1:c.1727C>G | NP_001350779.1:p.Ser576Trp | |
| XM_006721264.4:c.1727C>G | XP_006721327.1:p.Ser576Trp | |
| XR_001751971.2:n.2076C>G | ||
| XR_001751972.2:n.3363C>G | ||
| NM_003119.4:c.1727C>G MANE Select | NP_003110.1:p.Ser576Trp |