Linked Data
ClinVar Variation Id:
163641
dbSNP Id:
rs138132875
ExAC:
1:109472315 A / G
gnomAD v2:
1-109472315-A-G
gnomAD v3:
1-108929693-A-G
gnomAD v4:
1-108929693-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108929693A>G , CM000663.2:g.108929693A>G | GRCh38 |
| NC_000001.10:g.109472315A>G , CM000663.1:g.109472315A>G | GRCh37 |
| NC_000001.9:g.109273838A>G | NCBI36 |
| NG_028108.1:g.57713A>G | |
| NG_028108.2:g.59344A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685014.1:c.*2854T>C (CLCC1) | ENSP00000510582.1:n.*2854T>C | |
| ENST00000685104.1:c.*2854T>C (CLCC1) | ENSP00000508473.1:n.*2854T>C | |
| ENST00000685497.1:c.*2854T>C (CLCC1) | ENSP00000509420.1:n.*2854T>C | |
| ENST00000685540.1:c.*2854T>C (CLCC1) | ENSP00000510352.1:n.*2854T>C | |
| ENST00000685791.1:c.*2859T>C (CLCC1) | ENSP00000509029.1:n.*2859T>C | |
| ENST00000686434.1:c.*2854T>C (CLCC1) | ENSP00000508570.1:n.*2854T>C | |
| ENST00000686576.1:c.*3648T>C (CLCC1) | ENSP00000508853.1:n.*3648T>C | |
| ENST00000686776.1:c.*2854T>C (CLCC1) | ENSP00000509013.1:n.*2854T>C | |
| ENST00000686817.1:c.*2859T>C (CLCC1) | ENSP00000510123.1:n.*2859T>C | |
| ENST00000686821.1:c.*2854T>C (CLCC1) | ENSP00000508563.1:n.*2854T>C | |
| ENST00000687099.1:c.*2859T>C (CLCC1) | ENSP00000509546.1:n.*2859T>C | |
| ENST00000687134.1:c.*2854T>C (CLCC1) | ENSP00000510579.1:n.*2854T>C | |
| ENST00000687226.1:c.*2854T>C (CLCC1) | ENSP00000509162.1:n.*2854T>C | |
| ENST00000687328.1:c.*2854T>C (CLCC1) | ENSP00000508816.1:n.*2854T>C | |
| ENST00000687449.1:c.*2859T>C (CLCC1) | ENSP00000508982.1:n.*2859T>C | |
| ENST00000687591.1:c.*2854T>C (CLCC1) | ENSP00000509036.1:n.*2854T>C | |
| ENST00000687646.1:c.*2854T>C (CLCC1) | ENSP00000509187.1:n.*2854T>C | |
| ENST00000687675.1:n.4903T>C (CLCC1) | ||
| ENST00000687734.1:c.*2854T>C (CLCC1) | ENSP00000510543.1:n.*2854T>C | |
| ENST00000687865.1:c.*2859T>C (CLCC1) | ENSP00000509218.1:n.*2859T>C | |
| ENST00000687998.1:n.6621T>C (CLCC1) | ||
| ENST00000688070.1:c.*3759T>C (CLCC1) | ENSP00000508766.1:n.*3759T>C | |
| ENST00000688285.1:c.*2859T>C (CLCC1) | ENSP00000509990.1:n.*2859T>C | |
| ENST00000688298.1:n.4395T>C (CLCC1) | ||
| ENST00000688778.1:c.*2854T>C (CLCC1) | ENSP00000510715.1:n.*2854T>C | |
| ENST00000689103.1:c.*2854T>C (CLCC1) | ENSP00000510039.1:n.*2854T>C | |
| ENST00000689189.1:c.*2859T>C (CLCC1) | ENSP00000510675.1:n.*2859T>C | |
| ENST00000689351.1:c.*2854T>C (CLCC1) | ENSP00000508607.1:n.*2854T>C | |
| ENST00000689479.1:c.*2854T>C (CLCC1) | ENSP00000510122.1:n.*2854T>C | |
| ENST00000689991.1:c.*2854T>C (CLCC1) | ENSP00000508952.1:n.*2854T>C | |
| ENST00000690509.1:c.*45+4932T>C (CLCC1) | ENSP00000510142.1:n.*45+4932T>C | |
| ENST00000690707.1:n.4365T>C (CLCC1) | ||
| ENST00000690756.1:c.*2854T>C (CLCC1) | ENSP00000509544.1:n.*2854T>C | |
| ENST00000690781.1:c.*2859T>C (CLCC1) | ENSP00000510137.1:n.*2859T>C | |
| ENST00000691342.1:c.*2854T>C (CLCC1) | ENSP00000509738.1:n.*2854T>C | |
| ENST00000691513.1:c.*2854T>C (CLCC1) | ENSP00000509584.1:n.*2854T>C | |
| ENST00000691556.1:c.*2859T>C (CLCC1) | ENSP00000509451.1:n.*2859T>C | |
| ENST00000691777.1:c.*2854T>C (CLCC1) | ENSP00000508556.1:n.*2854T>C | |
| ENST00000692342.1:c.*2854T>C (CLCC1) | ENSP00000509495.1:n.*2854T>C | |
| ENST00000692511.1:c.*2854T>C (CLCC1) | ENSP00000510067.1:n.*2854T>C | |
| ENST00000692584.1:n.3958T>C (CLCC1) | ||
| ENST00000692775.1:c.*4327T>C (CLCC1) | ENSP00000509201.1:n.*4327T>C | |
| ENST00000693336.1:c.*2854T>C (CLCC1) | ENSP00000509936.1:n.*2854T>C | |
| ENST00000264126.9:c.1816-8A>G (GPSM2) MANE Select | ENSP00000264126.3:n.1816-8A>G | |
| ENST00000357393.6:c.-1+33668T>C (AKNAD1) | ENSP00000349968.6:n.-1+33668T>C | |
| ENST00000369968.7:c.*2854T>C (CLCC1) | ENSP00000358985.3:n.*2854T>C | |
| ENST00000369969.7:c.*2854T>C (CLCC1) MANE Select | ENSP00000358986.3:n.*2854T>C | |
| ENST00000446797.2:c.1816-8A>G (GPSM2) | ENSP00000392138.2:n.1816-8A>G | |
| ENST00000642355.1:c.1816-8A>G (GPSM2) | ENSP00000496104.1:n.1816-8A>G | |
| ENST00000645164.2:c.1816-8A>G (GPSM2) | ENSP00000496756.2:n.1816-8A>G | |
| ENST00000674700.1:c.1544-8A>G (GPSM2) | ENSP00000501743.1:n.1544-8A>G | |
| ENST00000674731.1:c.*533-8A>G (GPSM2) | ENSP00000502401.1:n.*533-8A>G | |
| ENST00000674914.1:c.1867-8A>G (GPSM2) | ENSP00000501579.1:n.1867-8A>G | |
| ENST00000674992.1:c.*4327T>C (CLCC1) | ENSP00000501696.1:n.*4327T>C | |
| ENST00000675001.1:c.*4327T>C (CLCC1) | ENSP00000502551.1:n.*4327T>C | |
| ENST00000675018.1:c.*2854T>C (CLCC1) | ENSP00000501777.1:n.*2854T>C | |
| ENST00000675086.1:c.1639-8A>G (GPSM2) | ENSP00000502476.1:n.1639-8A>G | |
| ENST00000675087.1:c.1867-8A>G (GPSM2) | ENSP00000502020.1:n.1867-8A>G | |
| ENST00000675740.1:n.1431-8A>G (GPSM2) | ||
| ENST00000676184.1:c.1816-8A>G (GPSM2) | ENSP00000502178.1:n.1816-8A>G | |
| ENST00000676404.1:c.*722-8A>G (GPSM2) | ENSP00000502346.1:n.*722-8A>G | |
| ENST00000264126.7:c.1816-8A>G (GPSM2) | ENSP00000264126.3:n.1816-8A>G | |
| ENST00000356970.6:c.*2854T>C (CLCC1) | ENSP00000349456.2:n.*2854T>C | |
| ENST00000357393.5:c.114+33668T>C | ENSP00000349968.5:n.114+33668T>C | |
| ENST00000369968.6:c.*2854T>C (CLCC1) | ENSP00000358985.2:n.*2854T>C | |
| ENST00000369969.6:c.*2854T>C (CLCC1) | ENSP00000358986.2:n.*2854T>C | |
| ENST00000406462.6:c.1816-8A>G (GPSM2) | ENSP00000385510.1:n.1816-8A>G | |
| NM_001048210.2:c.*2854T>C (CLCC1) | NP_001041675.1:n.*2854T>C | |
| NM_001278202.1:c.*2854T>C (CLCC1) | NP_001265131.1:n.*2854T>C | |
| NM_001278203.1:c.*2854T>C (CLCC1) | NP_001265132.1:n.*2854T>C | |
| NM_013296.4:c.1816-8A>G (GPSM2) | NP_037428.3:n.1816-8A>G | |
| NM_015127.4:c.*2854T>C (CLCC1) | NP_055942.1:n.*2854T>C | |
| XM_005270787.2:c.1816-8A>G (GPSM2) | XP_005270844.1:n.1816-8A>G | |
| XM_006710589.1:c.1759-8A>G (GPSM2) | XP_006710652.1:n.1759-8A>G | |
| XM_011541301.1:c.1816-8A>G (GPSM2) | XP_011539603.1:n.1816-8A>G | |
| XM_011541302.1:c.1816-8A>G (GPSM2) | XP_011539604.1:n.1816-8A>G | |
| NM_001321038.1:c.1816-8A>G (GPSM2) | NP_001307967.1:n.1816-8A>G | |
| NM_001321039.1:c.1816-8A>G (GPSM2) | NP_001307968.1:n.1816-8A>G | |
| XM_006710589.3:c.1759-8A>G (GPSM2) | XP_006710652.1:n.1759-8A>G | |
| XM_011541301.2:c.1816-8A>G (GPSM2) | XP_011539603.1:n.1816-8A>G | |
| XM_011541302.3:c.1816-8A>G (GPSM2) | XP_011539604.1:n.1816-8A>G | |
| XM_017001097.2:c.1816-8A>G (GPSM2) | XP_016856586.1:n.1816-8A>G | |
| XM_017001098.2:c.1816-8A>G (GPSM2) | XP_016856587.1:n.1816-8A>G | |
| NM_013296.5:c.1816-8A>G (GPSM2) MANE Select | NP_037428.3:n.1816-8A>G | |
| NM_001048210.3:c.*2854T>C (CLCC1) | NP_001041675.1:n.*2854T>C | |
| NM_001278202.2:c.*2854T>C (CLCC1) | NP_001265131.1:n.*2854T>C | |
| NM_001321038.2:c.1816-8A>G (GPSM2) | NP_001307967.1:n.1816-8A>G | |
| NM_001321039.2:c.1816-8A>G (GPSM2) | NP_001307968.1:n.1816-8A>G | |
| NM_001377458.1:c.*2854T>C (CLCC1) MANE Select | NP_001364387.1:n.*2854T>C | |
| NM_001377459.1:c.*2859T>C (CLCC1) | NP_001364388.1:n.*2859T>C | |
| NM_001377460.1:c.*2859T>C (CLCC1) | NP_001364389.1:n.*2859T>C | |
| NM_001377461.1:c.*2854T>C (CLCC1) | NP_001364390.1:n.*2854T>C | |
| NM_001377462.1:c.*2859T>C (CLCC1) | NP_001364391.1:n.*2859T>C | |
| NM_001377463.1:c.*2854T>C (CLCC1) | NP_001364392.1:n.*2854T>C | |
| NM_001377464.1:c.*2854T>C (CLCC1) | NP_001364393.1:n.*2854T>C | |
| NM_001377465.1:c.*2854T>C (CLCC1) | NP_001364394.1:n.*2854T>C | |
| NM_001377466.1:c.*2854T>C (CLCC1) | NP_001364395.1:n.*2854T>C | |
| NM_001377467.1:c.*2854T>C (CLCC1) | NP_001364396.1:n.*2854T>C | |
| NM_001377468.1:c.*2859T>C (CLCC1) | NP_001364397.1:n.*2859T>C | |
| NM_001377469.1:c.*2854T>C (CLCC1) | NP_001364398.1:n.*2854T>C | |
| NM_001377470.1:c.*2854T>C (CLCC1) | NP_001364399.1:n.*2854T>C | |
| NM_015127.5:c.*2854T>C (CLCC1) | NP_055942.1:n.*2854T>C | |
| NR_165299.1:n.5125T>C (CLCC1) | ||
| NM_001321039.3:c.1816-8A>G (GPSM2) | NP_001307968.1:n.1816-8A>G |