gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41323701G>C , CM000681.2:g.41323701G>C | GRCh38 |
| NC_000019.9:g.41829606G>C , CM000681.1:g.41829606G>C | GRCh37 |
| NC_000019.8:g.46521446G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269967.4:c.*986G>C (CCDC97) MANE Select | ENSP00000269967.2:n.*986G>C | |
| ENST00000269967.3:c.*986G>C (CCDC97) | ENSP00000269967.2:n.*986G>C | |
| ENST00000598758.5:c.302+8427C>G (TGFB1) | ||
| NM_052848.1:c.*986G>C (CCDC97) | NP_443080.1:n.*986G>C | |
| XM_005259377.3:c.*986G>C (CCDC97) | XP_005259434.1:n.*986G>C | |
| NM_001346100.1:c.*986G>C (CCDC97) | NP_001333029.1:n.*986G>C | |
| NM_052848.2:c.*986G>C (CCDC97) | NP_443080.1:n.*986G>C | |
| NM_052848.3:c.*986G>C (CCDC97) MANE Select | NP_443080.1:n.*986G>C | |
| NM_001346100.2:c.*986G>C (CCDC97) | NP_001333029.1:n.*986G>C |