gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16095339 (AFR)
Genomes Max Group AF
0.17710398 (EAS)
Exomes Max Group AF
0.15977086 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90629669C>T , CM000677.2:g.90629669C>T | GRCh38 |
| NC_000015.9:g.91172901C>T , CM000677.1:g.91172901C>T | GRCh37 |
| NC_000015.8:g.88973905C>T | NCBI36 |
| NG_047180.1:g.104784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686240.1:c.*679+137C>T (CRTC3) | ENSP00000508866.1:n.*679+137C>T | |
| ENST00000691029.1:c.1266+137C>T (CRTC3) | ENSP00000510507.1:n.1266+137C>T | |
| ENST00000692149.1:c.1079+137C>T (CRTC3) | ENSP00000510448.1:n.1079+137C>T | |
| ENST00000268184.11:c.1266+137C>T (CRTC3) MANE Select | ENSP00000268184.6:n.1266+137C>T | |
| ENST00000268184.10:c.1266+137C>T (CRTC3) | ENSP00000268184.6:n.1266+137C>T | |
| ENST00000420329.6:c.1266+137C>T (CRTC3) | ENSP00000416573.2:n.1266+137C>T | |
| NM_001042574.2:c.1266+137C>T (CRTC3) | NP_001036039.1:n.1266+137C>T | |
| NM_022769.4:c.1266+137C>T (CRTC3) | NP_073606.3:n.1266+137C>T | |
| NR_120372.1:n.510-9516G>A (CRTC3-AS1) | ||
| XM_005254968.1:c.1263+137C>T (CRTC3) | XP_005255025.1:n.1263+137C>T | |
| XM_011521906.1:c.1167+137C>T (CRTC3) | XP_011520208.1:n.1167+137C>T | |
| XM_005254968.2:c.1263+137C>T (CRTC3) | XP_005255025.1:n.1263+137C>T | |
| XM_011521906.2:c.1167+137C>T (CRTC3) | XP_011520208.1:n.1167+137C>T | |
| XM_024450018.1:c.693+137C>T (CRTC3) | XP_024305786.1:n.693+137C>T | |
| XM_024450019.1:c.693+137C>T (CRTC3) | XP_024305787.1:n.693+137C>T | |
| NM_022769.5:c.1266+137C>T (CRTC3) MANE Select | NP_073606.3:n.1266+137C>T | |
| NM_001042574.3:c.1266+137C>T (CRTC3) | NP_001036039.1:n.1266+137C>T |