Linked Data
ClinVar Variation Id:
283438
dbSNP Id:
rs746640722
ExAC:
14:77745127 C / G
gnomAD v3:
14-77278784-C-G
gnomAD v4:
14-77278784-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278784C>G , CM000676.2:g.77278784C>G | GRCh38 |
| NC_000014.8:g.77745127C>G , CM000676.1:g.77745127C>G | GRCh37 |
| NC_000014.7:g.76814880C>G | NCBI36 |
| NG_008897.1:g.47099G>C , LRG_844:g.47099G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.902G>C | ||
| ENST00000556394.2:c.1518G>C | ENSP00000451967.2:p.Arg506= | |
| ENST00000682128.1:c.278G>C | ENSP00000506976.1:n.278G>C | |
| ENST00000682247.1:c.1966G>C | ENSP00000507213.1:p.Gly656Arg | |
| ENST00000682395.1:n.2441G>C | ||
| ENST00000682459.1:n.1680G>C | ||
| ENST00000682467.1:c.1892-276G>C | ENSP00000508062.1:n.1892-276G>C | |
| ENST00000682615.1:n.331G>C | ||
| ENST00000682795.1:c.2124G>C | ENSP00000507574.1:p.Arg708= | |
| ENST00000682895.1:n.1693G>C | ||
| ENST00000682955.1:n.1551G>C | ||
| ENST00000683095.1:c.383G>C | ENSP00000508040.1:n.383G>C | |
| ENST00000683188.1:c.2238G>C | ||
| ENST00000683380.1:n.1641G>C | ||
| ENST00000683828.1:c.1686G>C | ||
| ENST00000683907.1:c.242G>C | ENSP00000507754.1:n.242G>C | |
| ENST00000684172.1:c.353G>C | ENSP00000508391.1:n.353G>C | |
| ENST00000684259.1:n.3744G>C | ||
| ENST00000684538.1:n.1356G>C | ||
| ENST00000684549.1:n.1528G>C | ||
| ENST00000261534.9:c.1977G>C MANE Select | ENSP00000261534.4:p.Arg659= | |
| ENST00000261534.8:c.1977G>C | ENSP00000261534.4:p.Arg659= | |
| ENST00000452340.7:n.2953G>C | ||
| ENST00000554767.5:n.2763G>C | ||
| ENST00000555710.1:c.338G>C | ENSP00000451730.1:n.338G>C | |
| ENST00000556171.1:c.569G>C | ||
| ENST00000556394.1:c.88-276G>C | ||
| ENST00000556446.1:n.278G>C | ||
| ENST00000602717.5:c.192G>C | ENSP00000487704.1:p.Arg64= | |
| NM_013382.5:c.1977G>C , LRG_844t1:c.1977G>C | NP_037514.2:p.Arg659= | |
| XM_011536675.1:c.2166G>C | XP_011534977.1:p.Arg722= | |
| XM_011536676.1:c.1833G>C | XP_011534978.1:p.Arg611= | |
| XM_011536677.1:c.1707G>C | XP_011534979.1:p.Arg569= | |
| XM_011536679.1:c.1260G>C | XP_011534981.1:p.Arg420= | |
| XR_943416.1:n.2230G>C | ||
| XM_011536675.2:c.2166G>C | XP_011534977.1:p.Arg722= | |
| XM_011536676.2:c.1833G>C | XP_011534978.1:p.Arg611= | |
| XM_011536677.3:c.1707G>C | XP_011534979.1:p.Arg569= | |
| XR_001750279.1:n.2263G>C | ||
| XR_001750282.1:n.2916G>C | ||
| XR_943416.3:n.2228G>C | ||
| NM_013382.6:c.1977G>C | NP_037514.2:p.Arg659= | |
| NM_013382.7:c.1977G>C MANE Select | NP_037514.2:p.Arg659= |