Linked Data
ClinVar Variation Id:
2399285
ClinVar RCV Id:
RCV004236026
dbSNP Id:
rs764377967
ExAC:
19:41825661 G / A
gnomAD v2:
19-41825661-G-A
gnomAD v3:
19-41319756-G-A
gnomAD v4:
19-41319756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41319756G>A , CM000681.2:g.41319756G>A | GRCh38 |
| NC_000019.9:g.41825661G>A , CM000681.1:g.41825661G>A | GRCh37 |
| NC_000019.8:g.46517501G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269967.4:c.685G>A (CCDC97) MANE Select | ENSP00000269967.2:p.Glu229Lys | |
| ENST00000269967.3:c.685G>A (CCDC97) | ENSP00000269967.2:p.Glu229Lys | |
| ENST00000598758.5:c.302+12372C>T (TGFB1) | ||
| ENST00000600918.1:c.24G>A (CCDC97) | ||
| NM_052848.1:c.685G>A (CCDC97) | NP_443080.1:p.Glu229Lys | |
| XM_005259377.3:c.490G>A (CCDC97) | XP_005259434.1:p.Glu164Lys | |
| NM_001346100.1:c.490G>A (CCDC97) | NP_001333029.1:p.Glu164Lys | |
| NM_052848.2:c.685G>A (CCDC97) | NP_443080.1:p.Glu229Lys | |
| XM_017027442.1:c.847G>A (CCDC97) | XP_016882931.1:p.Glu283Lys | |
| NM_052848.3:c.685G>A (CCDC97) MANE Select | NP_443080.1:p.Glu229Lys | |
| NM_001346100.2:c.490G>A (CCDC97) | NP_001333029.1:p.Glu164Lys |