Linked Data
dbSNP Id:
rs142232886
ExAC:
9:100105818 C / G
gnomAD v2:
9-100105818-C-G
gnomAD v4:
9-97343536-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343536C>G , CM000671.2:g.97343536C>G | GRCh38 |
| NC_000009.11:g.100105818C>G , CM000671.1:g.100105818C>G | GRCh37 |
| NC_000009.10:g.99145639C>G | NCBI36 |
| NG_052792.1:g.41233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2471C>G (CCDC180) MANE Select | ENSP00000434727.2:p.Ser824Trp | |
| ENST00000460482.6:n.2805C>G (CCDC180) | ||
| ENST00000494917.6:n.2674C>G (CCDC180) | ||
| ENST00000528678.1:n.567C>G (CCDC180) | ||
| ENST00000529487.1:c.2603C>G (CCDC180) | ENSP00000434727.1:p.Ser868Trp | |
| ENST00000530011.1:n.236-5575C>G (CCDC180) | ||
| NM_020893.2:c.2603C>G (CCDC180) | NP_065944.2:p.Ser868Trp | |
| NR_036527.1:n.4026C>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.4026C>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3586C>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2594C>G (CCDC180) | NP_001334939.1:p.Ser865Trp | |
| NM_020893.3:c.2603C>G (CCDC180) | NP_065944.2:p.Ser868Trp | |
| NM_001348010.2:c.2594C>G (CCDC180) | NP_001334939.1:p.Ser865Trp | |
| NM_020893.4:c.2603C>G (CCDC180) | NP_065944.2:p.Ser868Trp | |
| NM_001348010.4:c.2462C>G (CCDC180) | NP_001334939.2:p.Ser821Trp | |
| NM_020893.6:c.2471C>G (CCDC180) MANE Select | NP_065944.3:p.Ser824Trp |