Linked Data
ClinVar Variation Id:
161762
ClinVar RCV Id:
RCV000149298
dbSNP Id:
rs193921108
COSMIC:
COSM5521448
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90638566C>A , CM000677.2:g.90638566C>A | GRCh38 |
| NC_000015.9:g.91181798C>A , CM000677.1:g.91181798C>A | GRCh37 |
| NC_000015.8:g.88982802C>A | NCBI36 |
| NG_047180.1:g.113681C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686240.1:c.*800C>A (CRTC3) | ENSP00000508866.1:n.*800C>A | |
| ENST00000691029.1:c.1387C>A (CRTC3) | ENSP00000510507.1:p.Arg463Ser | |
| ENST00000692149.1:c.1200C>A (CRTC3) | ENSP00000510448.1:n.1200C>A | |
| ENST00000268184.11:c.1387C>A (CRTC3) MANE Select | ENSP00000268184.6:p.Arg463Ser | |
| ENST00000268184.10:c.1387C>A (CRTC3) | ENSP00000268184.6:p.Arg463Ser | |
| ENST00000420329.6:c.1387C>A (CRTC3) | ENSP00000416573.2:p.Arg463Ser | |
| NM_001042574.2:c.1387C>A (CRTC3) | NP_001036039.1:p.Arg463Ser | |
| NM_022769.4:c.1387C>A (CRTC3) | NP_073606.3:p.Arg463Ser | |
| NR_120372.1:n.509+2476G>T (CRTC3-AS1) | ||
| XM_005254968.1:c.1384C>A (CRTC3) | XP_005255025.1:p.Arg462Ser | |
| XM_011521906.1:c.1288C>A (CRTC3) | XP_011520208.1:p.Arg430Ser | |
| XM_005254968.2:c.1384C>A (CRTC3) | XP_005255025.1:p.Arg462Ser | |
| XM_011521906.2:c.1288C>A (CRTC3) | XP_011520208.1:p.Arg430Ser | |
| XM_024450018.1:c.814C>A (CRTC3) | XP_024305786.1:p.Arg272Ser | |
| XM_024450019.1:c.814C>A (CRTC3) | XP_024305787.1:p.Arg272Ser | |
| NM_022769.5:c.1387C>A (CRTC3) MANE Select | NP_073606.3:p.Arg463Ser | |
| NM_001042574.3:c.1387C>A (CRTC3) | NP_001036039.1:p.Arg463Ser |