Linked Data
ClinVar Variation Id:
546465
dbSNP Id:
rs966965226
gnomAD v2:
14-77745177-C-G
gnomAD v3:
14-77278834-C-G
gnomAD v4:
14-77278834-C-G
COSMIC:
COSM2139255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278834C>G , CM000676.2:g.77278834C>G | GRCh38 |
| NC_000014.8:g.77745177C>G , CM000676.1:g.77745177C>G | GRCh37 |
| NC_000014.7:g.76814930C>G | NCBI36 |
| NG_008897.1:g.47049G>C , LRG_844:g.47049G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.852G>C | ||
| ENST00000556394.2:c.1468G>C | ENSP00000451967.2:p.Val490Leu | |
| ENST00000682128.1:c.228G>C | ENSP00000506976.1:n.228G>C | |
| ENST00000682247.1:c.1916G>C | ENSP00000507213.1:p.Gly639Ala | |
| ENST00000682395.1:n.2391G>C | ||
| ENST00000682459.1:n.1630G>C | ||
| ENST00000682467.1:c.1892-326G>C | ENSP00000508062.1:n.1892-326G>C | |
| ENST00000682615.1:n.281G>C | ||
| ENST00000682795.1:c.2074G>C | ENSP00000507574.1:p.Val692Leu | |
| ENST00000682895.1:n.1643G>C | ||
| ENST00000682955.1:n.1501G>C | ||
| ENST00000683095.1:c.333G>C | ENSP00000508040.1:n.333G>C | |
| ENST00000683188.1:c.2188G>C | ||
| ENST00000683380.1:n.1591G>C | ||
| ENST00000683828.1:c.1636G>C | ||
| ENST00000683907.1:c.192G>C | ENSP00000507754.1:p.Arg64Ser | |
| ENST00000684172.1:c.303G>C | ENSP00000508391.1:n.303G>C | |
| ENST00000684259.1:n.3694G>C | ||
| ENST00000684538.1:n.1306G>C | ||
| ENST00000684549.1:n.1478G>C | ||
| ENST00000261534.9:c.1927G>C MANE Select | ENSP00000261534.4:p.Val643Leu | |
| ENST00000261534.8:c.1927G>C | ENSP00000261534.4:p.Val643Leu | |
| ENST00000452340.7:n.2903G>C | ||
| ENST00000554767.5:n.2713G>C | ||
| ENST00000555134.1:n.852G>C | ||
| ENST00000555710.1:c.288G>C | ENSP00000451730.1:n.288G>C | |
| ENST00000556171.1:c.519G>C | ||
| ENST00000556394.1:c.88-326G>C | ||
| ENST00000556446.1:n.228G>C | ||
| ENST00000602717.5:c.142G>C | ENSP00000487704.1:p.Val48Leu | |
| NM_013382.5:c.1927G>C , LRG_844t1:c.1927G>C | NP_037514.2:p.Val643Leu | |
| XM_011536675.1:c.2116G>C | XP_011534977.1:p.Val706Leu | |
| XM_011536676.1:c.1783G>C | XP_011534978.1:p.Val595Leu | |
| XM_011536677.1:c.1657G>C | XP_011534979.1:p.Val553Leu | |
| XM_011536679.1:c.1210G>C | XP_011534981.1:p.Val404Leu | |
| XR_943416.1:n.2180G>C | ||
| XM_011536675.2:c.2116G>C | XP_011534977.1:p.Val706Leu | |
| XM_011536676.2:c.1783G>C | XP_011534978.1:p.Val595Leu | |
| XM_011536677.3:c.1657G>C | XP_011534979.1:p.Val553Leu | |
| XR_001750279.1:n.2213G>C | ||
| XR_001750282.1:n.2866G>C | ||
| XR_943416.3:n.2178G>C | ||
| NM_013382.6:c.1927G>C | NP_037514.2:p.Val643Leu | |
| NM_013382.7:c.1927G>C MANE Select | NP_037514.2:p.Val643Leu |