Linked Data
ClinVar Variation Id:
2292883
ClinVar RCV Id:
RCV004146446
dbSNP Id:
rs768577577
ExAC:
19:41826338 C / T
gnomAD v2:
19-41826338-C-T
gnomAD v3:
19-41320433-C-T
gnomAD v4:
19-41320433-C-T
COSMIC:
COSM6284457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41320433C>T , CM000681.2:g.41320433C>T | GRCh38 |
| NC_000019.9:g.41826338C>T , CM000681.1:g.41826338C>T | GRCh37 |
| NC_000019.8:g.46518178C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269967.4:c.874C>T (CCDC97) MANE Select | ENSP00000269967.2:p.Arg292Cys | |
| ENST00000269967.3:c.874C>T (CCDC97) | ENSP00000269967.2:p.Arg292Cys | |
| ENST00000598758.5:c.302+11695G>A (TGFB1) | ||
| ENST00000600918.1:c.213C>T (CCDC97) | ||
| NM_052848.1:c.874C>T (CCDC97) | NP_443080.1:p.Arg292Cys | |
| XM_005259377.3:c.679C>T (CCDC97) | XP_005259434.1:p.Arg227Cys | |
| NM_001346100.1:c.679C>T (CCDC97) | NP_001333029.1:p.Arg227Cys | |
| NM_052848.2:c.874C>T (CCDC97) | NP_443080.1:p.Arg292Cys | |
| XM_017027442.1:c.1036C>T (CCDC97) | XP_016882931.1:p.Arg346Cys | |
| NM_052848.3:c.874C>T (CCDC97) MANE Select | NP_443080.1:p.Arg292Cys | |
| NM_001346100.2:c.679C>T (CCDC97) | NP_001333029.1:p.Arg227Cys |