Linked Data
dbSNP Id:
rs1218362042
gnomAD v2:
9-100105734-G-A
gnomAD v3:
9-97343452-G-A
gnomAD v4:
9-97343452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343452G>A , CM000671.2:g.97343452G>A | GRCh38 |
| NC_000009.11:g.100105734G>A , CM000671.1:g.100105734G>A | GRCh37 |
| NC_000009.10:g.99145555G>A | NCBI36 |
| NG_052792.1:g.41149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2387G>A (CCDC180) MANE Select | ENSP00000434727.2:p.Cys796Tyr | |
| ENST00000460482.6:n.2721G>A (CCDC180) | ||
| ENST00000494917.6:n.2590G>A (CCDC180) | ||
| ENST00000528678.1:n.483G>A (CCDC180) | ||
| ENST00000529487.1:c.2519G>A (CCDC180) | ENSP00000434727.1:p.Cys840Tyr | |
| ENST00000530011.1:n.236-5659G>A (CCDC180) | ||
| NM_020893.2:c.2519G>A (CCDC180) | NP_065944.2:p.Cys840Tyr | |
| NR_036527.1:n.3942G>A (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.3942G>A (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3502G>A (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2510G>A (CCDC180) | NP_001334939.1:p.Cys837Tyr | |
| NM_020893.3:c.2519G>A (CCDC180) | NP_065944.2:p.Cys840Tyr | |
| NM_001348010.2:c.2510G>A (CCDC180) | NP_001334939.1:p.Cys837Tyr | |
| NM_020893.4:c.2519G>A (CCDC180) | NP_065944.2:p.Cys840Tyr | |
| NM_001348010.4:c.2378G>A (CCDC180) | NP_001334939.2:p.Cys793Tyr | |
| NM_020893.6:c.2387G>A (CCDC180) MANE Select | NP_065944.3:p.Cys796Tyr |