Linked Data
ClinVar Variation Id:
260291
dbSNP Id:
rs147268052
ExAC:
14:77755108 T / C
gnomAD v2:
14-77755108-T-C
gnomAD v3:
14-77288765-T-C
gnomAD v4:
14-77288765-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77288765T>C , CM000676.2:g.77288765T>C | GRCh38 |
| NC_000014.8:g.77755108T>C , CM000676.1:g.77755108T>C | GRCh37 |
| NC_000014.7:g.76824861T>C | NCBI36 |
| NG_008897.1:g.37118A>G , LRG_844:g.37118A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.791A>G | ENSP00000451967.2:p.Lys264Arg | |
| ENST00000682247.1:c.1250A>G | ENSP00000507213.1:p.Lys417Arg | |
| ENST00000682382.1:c.822A>G | ||
| ENST00000682395.1:n.979A>G | ||
| ENST00000682459.1:n.914A>G | ||
| ENST00000682467.1:c.1250A>G | ENSP00000508062.1:p.Lys417Arg | |
| ENST00000682795.1:c.1250A>G | ENSP00000507574.1:p.Lys417Arg | |
| ENST00000682895.1:n.966A>G | ||
| ENST00000682955.1:n.538A>G | ||
| ENST00000683188.1:c.776A>G | ||
| ENST00000683328.1:c.243A>G | ENSP00000508096.1:n.243A>G | |
| ENST00000683380.1:n.914A>G | ||
| ENST00000683828.1:c.959A>G | ||
| ENST00000684259.1:n.1101A>G | ||
| ENST00000684549.1:n.801A>G | ||
| ENST00000261534.9:c.1250A>G MANE Select | ENSP00000261534.4:p.Lys417Arg | |
| ENST00000261534.8:c.1250A>G | ENSP00000261534.4:p.Lys417Arg | |
| ENST00000452340.7:n.1273A>G | ||
| ENST00000553880.5:n.121A>G | ||
| ENST00000554767.5:n.2036A>G | ||
| ENST00000556851.1:n.247A>G | ||
| ENST00000557675.5:n.340A>G | ||
| NM_013382.5:c.1250A>G , LRG_844t1:c.1250A>G | NP_037514.2:p.Lys417Arg | |
| XM_011536675.1:c.1250A>G | XP_011534977.1:p.Lys417Arg | |
| XM_011536676.1:c.917A>G | XP_011534978.1:p.Lys306Arg | |
| XM_011536677.1:c.791A>G | XP_011534979.1:p.Lys264Arg | |
| XM_011536678.1:c.1250A>G | XP_011534980.1:p.Lys417Arg | |
| XM_011536679.1:c.344A>G | XP_011534981.1:p.Lys115Arg | |
| XM_011536680.1:c.1250A>G | XP_011534982.1:p.Lys417Arg | |
| XR_943416.1:n.1453A>G | ||
| XM_011536675.2:c.1250A>G | XP_011534977.1:p.Lys417Arg | |
| XM_011536676.2:c.917A>G | XP_011534978.1:p.Lys306Arg | |
| XM_011536677.3:c.791A>G | XP_011534979.1:p.Lys264Arg | |
| XR_001750279.1:n.1450A>G | ||
| XR_001750282.1:n.1454A>G | ||
| XR_943416.3:n.1451A>G | ||
| NM_013382.6:c.1250A>G | NP_037514.2:p.Lys417Arg | |
| NM_013382.7:c.1250A>G MANE Select | NP_037514.2:p.Lys417Arg |