Linked Data
ClinVar Variation Id:
2830038
ClinVar RCV Id:
RCV003628190
dbSNP Id:
rs556045045
MyVariant Identifiers:
chr16:g.2136734C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086733C>G , CM000678.2:g.2086733C>G | GRCh38 |
| NC_000016.9:g.2136734C>G , CM000678.1:g.2136734C>G | GRCh37 |
| NC_000016.8:g.2076735C>G | NCBI36 |
| NG_005895.1:g.42428C>G , LRG_487:g.42428C>G | |
| NG_008617.1:g.56488G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3200C>G | ENSP00000455997.2:n.*3200C>G | |
| ENST00000642206.2:c.4698C>G | ENSP00000495146.2:p.Ala1566= | |
| ENST00000642365.2:c.4848C>G | ENSP00000495459.2:p.Ala1616= | |
| ENST00000644417.2:c.*5364C>G | ENSP00000493912.2:n.*5364C>G | |
| ENST00000646464.2:c.*7600C>G | ENSP00000496610.2:n.*7600C>G | |
| ENST00000219476.9:c.4851C>G MANE Select | ENSP00000219476.3:p.Ala1617= | |
| ENST00000350773.9:c.4782C>G | ENSP00000344383.4:p.Ala1594= | |
| ENST00000401874.7:c.4650C>G | ENSP00000384468.2:p.Ala1550= | |
| ENST00000568454.6:c.4683C>G | ENSP00000454487.1:p.Ala1561= | |
| ENST00000569110.2:c.1074C>G | ||
| ENST00000569930.2:n.2733C>G | ||
| ENST00000642365.1:c.3505C>G | ||
| ENST00000642561.1:c.4722C>G | ENSP00000495099.1:p.Ala1574= | |
| ENST00000642728.1:n.1033C>G | ||
| ENST00000642791.1:n.448C>G | ||
| ENST00000642797.1:c.4653C>G | ENSP00000493846.1:p.Ala1551= | |
| ENST00000642936.1:c.4719C>G | ENSP00000494514.1:p.Ala1573= | |
| ENST00000643088.1:c.4644C>G | ENSP00000494747.1:p.Ala1548= | |
| ENST00000643177.1:n.865C>G | ||
| ENST00000643426.1:n.2499C>G | ||
| ENST00000643946.1:c.4776C>G | ENSP00000495927.1:p.Ala1592= | |
| ENST00000644043.1:c.4722C>G | ENSP00000496262.1:p.Ala1574= | |
| ENST00000644278.1:n.333C>G | ||
| ENST00000644329.1:c.4650C>G | ENSP00000496611.1:p.Ala1550= | |
| ENST00000644335.1:c.4647C>G | ENSP00000496317.1:p.Ala1549= | |
| ENST00000644399.1:c.4772C>G | ||
| ENST00000645024.1:n.2935C>G | ||
| ENST00000646388.1:c.4845C>G | ENSP00000495921.1:p.Ala1615= | |
| ENST00000646557.1:n.12C>G | ||
| ENST00000646634.1:n.3666C>G | ||
| ENST00000646674.1:n.2103C>G | ||
| ENST00000647042.1:n.2074C>G | ||
| ENST00000647180.1:n.1964C>G | ||
| ENST00000219476.7:c.4851C>G | ENSP00000219476.3:p.Ala1617= | |
| ENST00000350773.8:c.4782C>G | ENSP00000344383.4:p.Ala1594= | |
| ENST00000382538.10:c.4506C>G | ENSP00000371978.6:p.Ala1502= | |
| ENST00000401874.6:c.4650C>G | ENSP00000384468.2:p.Ala1550= | |
| ENST00000439117.6:c.*4018C>G | ENSP00000406980.2:n.*4018C>G | |
| ENST00000439673.6:c.4542C>G | ENSP00000399232.2:p.Ala1514= | |
| ENST00000497886.5:n.2608-34C>G | ||
| ENST00000568454.5:c.4683C>G | ENSP00000454487.1:p.Ala1561= | |
| ENST00000569110.1:c.1033C>G | ||
| ENST00000569930.1:n.1966C>G | ||
| NM_000548.3:c.4851C>G , LRG_487t1:c.4851C>G | NP_000539.2:p.Ala1617= | |
| NM_001077183.1:c.4650C>G | NP_001070651.1:p.Ala1550= | |
| NM_001114382.1:c.4782C>G | NP_001107854.1:p.Ala1594= | |
| XM_005255529.3:c.4722C>G | XP_005255586.2:p.Ala1574= | |
| XM_005255531.3:c.4653C>G | XP_005255588.2:p.Ala1551= | |
| XM_011522636.1:c.4905C>G | XP_011520938.1:p.Ala1635= | |
| XM_011522637.1:c.4902C>G | XP_011520939.1:p.Ala1634= | |
| XM_011522638.1:c.4794C>G | XP_011520940.1:p.Ala1598= | |
| XM_011522639.1:c.4776C>G | XP_011520941.1:p.Ala1592= | |
| XM_011522640.1:c.4773C>G | XP_011520942.1:p.Ala1591= | |
| XM_011522641.1:c.4542C>G | XP_011520943.1:p.Ala1514= | |
| NM_000548.4:c.4851C>G | NP_000539.2:p.Ala1617= | |
| NM_001077183.2:c.4650C>G | NP_001070651.1:p.Ala1550= | |
| NM_001114382.2:c.4782C>G | NP_001107854.1:p.Ala1594= | |
| NM_001318827.1:c.4542C>G | NP_001305756.1:p.Ala1514= | |
| NM_001318829.1:c.4506C>G | NP_001305758.1:p.Ala1502= | |
| NM_001318831.1:c.4119C>G | NP_001305760.1:p.Ala1373= | |
| NM_001318832.1:c.4683C>G | NP_001305761.1:p.Ala1561= | |
| NM_001363528.1:c.4653C>G | NP_001350457.1:p.Ala1551= | |
| NM_021055.2:c.4722C>G | NP_066399.2:p.Ala1574= | |
| XM_005255531.4:c.4653C>G | XP_005255588.2:p.Ala1551= | |
| XM_011522636.2:c.4905C>G | XP_011520938.1:p.Ala1635= | |
| XM_011522637.2:c.4902C>G | XP_011520939.1:p.Ala1634= | |
| XM_011522638.2:c.5067C>G | XP_011520940.2:p.Ala1689= | |
| XM_011522639.2:c.4776C>G | XP_011520941.1:p.Ala1592= | |
| XM_011522640.2:c.4773C>G | XP_011520942.1:p.Ala1591= | |
| XM_017023615.1:c.4848C>G | XP_016879104.1:p.Ala1616= | |
| XM_017023616.1:c.4719C>G | XP_016879105.1:p.Ala1573= | |
| XM_017023617.1:c.4815C>G | XP_016879106.1:p.Ala1605= | |
| XM_017023618.1:c.3561C>G | XP_016879107.1:p.Ala1187= | |
| XM_024450413.1:c.4650C>G | XP_024306181.1:p.Ala1550= | |
| NM_000548.5:c.4851C>G MANE Select | NP_000539.2:p.Ala1617= | |
| NM_001370404.1:c.4719C>G | NP_001357333.1:p.Ala1573= | |
| NM_001370405.1:c.4722C>G | NP_001357334.1:p.Ala1574= | |
| NM_001077183.3:c.4650C>G | NP_001070651.1:p.Ala1550= | |
| NM_001114382.3:c.4782C>G | NP_001107854.1:p.Ala1594= | |
| NM_001318827.2:c.4542C>G | NP_001305756.1:p.Ala1514= | |
| NM_001318829.2:c.4506C>G | NP_001305758.1:p.Ala1502= | |
| NM_001318831.2:c.4119C>G | NP_001305760.1:p.Ala1373= | |
| NM_001318832.2:c.4683C>G | NP_001305761.1:p.Ala1561= | |
| NM_001363528.2:c.4653C>G | NP_001350457.1:p.Ala1551= | |
| NM_021055.3:c.4722C>G | NP_066399.2:p.Ala1574= |