Linked Data
ClinVar Variation Id:
420035
ClinVar RCV Id:
RCV000485877
dbSNP Id:
rs1064794249
COSMIC:
COSM1349894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93797550G>A , CM000672.2:g.93797550G>A | GRCh38 |
| NC_000010.10:g.95557307G>A , CM000672.1:g.95557307G>A | GRCh37 |
| NC_000010.9:g.95547297G>A | NCBI36 |
| NG_011832.1:g.44742G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371418.9:c.1421G>A MANE Select | ENSP00000360472.4:p.Arg474Gln | |
| ENST00000485458.3:n.5397G>A | ||
| ENST00000635804.1:n.855G>A | ||
| ENST00000635953.1:c.*843G>A | ENSP00000490058.1:n.*843G>A | |
| ENST00000636155.1:c.838+4200G>A | ENSP00000490355.1:n.838+4200G>A | |
| ENST00000636232.1:c.*1207G>A | ENSP00000490325.1:n.*1207G>A | |
| ENST00000636754.1:c.*1263G>A | ENSP00000489781.1:n.*1263G>A | |
| ENST00000636946.1:c.*1008-199G>A | ENSP00000490654.1:n.*1008-199G>A | |
| ENST00000637037.1:c.*1011G>A | ENSP00000490860.1:n.*1011G>A | |
| ENST00000637347.1:n.1282G>A | ||
| ENST00000637611.1:c.*977G>A | ENSP00000489682.1:n.*977G>A | |
| ENST00000637689.1:c.50G>A | ENSP00000490496.1:p.Arg17Gln | |
| ENST00000637925.1:c.*1016G>A | ENSP00000489763.1:n.*1016G>A | |
| ENST00000638049.1:c.*1179G>A | ENSP00000490597.1:n.*1179G>A | |
| ENST00000676175.1:n.3160G>A | ||
| ENST00000371413.4:c.839-199G>A | ENSP00000360467.3:n.839-199G>A | |
| ENST00000371418.8:c.1421G>A | ENSP00000360472.4:p.Arg474Gln | |
| ENST00000626307.1:n.5336G>A | ||
| ENST00000627420.2:c.*1130G>A | ENSP00000487116.1:n.*1130G>A | |
| ENST00000629035.2:c.1349G>A | ENSP00000486908.1:p.Arg450Gln | |
| ENST00000630047.2:c.1277G>A | ENSP00000485917.1:p.Arg426Gln | |
| NM_001308275.1:c.839-199G>A | NP_001295204.1:n.839-199G>A | |
| NM_001308276.1:c.1277G>A | NP_001295205.1:p.Arg426Gln | |
| NM_005097.2:c.1421G>A | NP_005088.1:p.Arg474Gln | |
| NM_005097.3:c.1421G>A | NP_005088.1:p.Arg474Gln | |
| NR_131777.1:n.1685G>A | ||
| XM_017016912.2:c.695-199G>A | XP_016872401.1:n.695-199G>A | |
| NM_005097.4:c.1421G>A MANE Select | NP_005088.1:p.Arg474Gln | |
| NM_001308275.2:c.839-199G>A | NP_001295204.1:n.839-199G>A | |
| NM_001308276.2:c.1277G>A | NP_001295205.1:p.Arg426Gln | |
| NR_131777.2:n.1558G>A |