Linked Data
ClinVar Variation Id:
2371401
ClinVar RCV Id:
RCV004212244
dbSNP Id:
rs755824909
ExAC:
19:41826372 A / G
gnomAD v2:
19-41826372-A-G
gnomAD v3:
19-41320467-A-G
gnomAD v4:
19-41320467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41320467A>G , CM000681.2:g.41320467A>G | GRCh38 |
| NC_000019.9:g.41826372A>G , CM000681.1:g.41826372A>G | GRCh37 |
| NC_000019.8:g.46518212A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269967.4:c.908A>G (CCDC97) MANE Select | ENSP00000269967.2:p.Tyr303Cys | |
| ENST00000269967.3:c.908A>G (CCDC97) | ENSP00000269967.2:p.Tyr303Cys | |
| ENST00000598758.5:c.302+11661T>C (TGFB1) | ||
| ENST00000600918.1:c.247A>G (CCDC97) | ||
| NM_052848.1:c.908A>G (CCDC97) | NP_443080.1:p.Tyr303Cys | |
| XM_005259377.3:c.713A>G (CCDC97) | XP_005259434.1:p.Tyr238Cys | |
| NM_001346100.1:c.713A>G (CCDC97) | NP_001333029.1:p.Tyr238Cys | |
| NM_052848.2:c.908A>G (CCDC97) | NP_443080.1:p.Tyr303Cys | |
| XM_017027442.1:c.1070A>G (CCDC97) | XP_016882931.1:p.Tyr357Cys | |
| NM_052848.3:c.908A>G (CCDC97) MANE Select | NP_443080.1:p.Tyr303Cys | |
| NM_001346100.2:c.713A>G (CCDC97) | NP_001333029.1:p.Tyr238Cys |