Linked Data
dbSNP Id:
rs10859974
ExAC:
12:96288860 T / C
gnomAD v2:
12-96288860-T-C
gnomAD v3:
12-95895082-T-C
gnomAD v4:
12-95895082-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95895082T>C , CM000674.2:g.95895082T>C | GRCh38 |
| NC_000012.11:g.96288860T>C , CM000674.1:g.96288860T>C | GRCh37 |
| NC_000012.10:g.94812991T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344280.8:c.679A>G (CCDC38) MANE Select | ENSP00000345470.3:p.Met227Val | |
| ENST00000344280.7:c.679A>G (CCDC38) | ENSP00000345470.3:p.Met227Val | |
| ENST00000552085.1:c.286+5901T>C (SNRPF) | ENSP00000447127.1:n.286+5901T>C | |
| NM_182496.2:c.679A>G (CCDC38) | NP_872302.2:p.Met227Val | |
| XM_006719229.1:c.187A>G (CCDC38) | XP_006719292.1:p.Met63Val | |
| XM_011537883.1:c.679A>G (CCDC38) | XP_011536185.1:p.Met227Val | |
| XM_011537884.1:c.559A>G (CCDC38) | XP_011536186.1:p.Met187Val | |
| XM_011537885.1:c.559A>G (CCDC38) | XP_011536187.1:p.Met187Val | |
| XM_011537886.1:c.559A>G (CCDC38) | XP_011536188.1:p.Met187Val | |
| XM_011537887.1:c.559A>G (CCDC38) | XP_011536189.1:p.Met187Val | |
| XM_011537888.1:c.28A>G (CCDC38) | XP_011536190.1:p.Met10Val | |
| XM_011537889.1:c.679A>G (CCDC38) | XP_011536191.1:p.Met227Val | |
| XR_429080.1:n.911A>G (CCDC38) | ||
| XM_006719229.2:c.187A>G (CCDC38) | XP_006719292.1:p.Met63Val | |
| XM_011537883.2:c.679A>G (CCDC38) | XP_011536185.1:p.Met227Val | |
| XM_011537884.2:c.559A>G (CCDC38) | XP_011536186.1:p.Met187Val | |
| XM_011537886.2:c.559A>G (CCDC38) | XP_011536188.1:p.Met187Val | |
| XM_011537887.2:c.559A>G (CCDC38) | XP_011536189.1:p.Met187Val | |
| XM_011537888.3:c.28A>G (CCDC38) | XP_011536190.1:p.Met10Val | |
| NM_182496.3:c.679A>G (CCDC38) MANE Select | NP_872302.2:p.Met227Val |