Linked Data
dbSNP Id:
rs1826153573
gnomAD v4:
9-97343534-A-G
MyVariant Identifiers:
chr9:g.100105816A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343534A>G , CM000671.2:g.97343534A>G | GRCh38 |
| NC_000009.11:g.100105816A>G , CM000671.1:g.100105816A>G | GRCh37 |
| NC_000009.10:g.99145637A>G | NCBI36 |
| NG_052792.1:g.41231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2469A>G (CCDC180) MANE Select | ENSP00000434727.2:p.Pro823= | |
| ENST00000460482.6:n.2803A>G (CCDC180) | ||
| ENST00000494917.6:n.2672A>G (CCDC180) | ||
| ENST00000528678.1:n.565A>G (CCDC180) | ||
| ENST00000529487.1:c.2601A>G (CCDC180) | ENSP00000434727.1:p.Pro867= | |
| ENST00000530011.1:n.236-5577A>G (CCDC180) | ||
| NM_020893.2:c.2601A>G (CCDC180) | NP_065944.2:p.Pro867= | |
| NR_036527.1:n.4024A>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.4024A>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3584A>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2592A>G (CCDC180) | NP_001334939.1:p.Pro864= | |
| NM_020893.3:c.2601A>G (CCDC180) | NP_065944.2:p.Pro867= | |
| NM_001348010.2:c.2592A>G (CCDC180) | NP_001334939.1:p.Pro864= | |
| NM_020893.4:c.2601A>G (CCDC180) | NP_065944.2:p.Pro867= | |
| NM_001348010.4:c.2460A>G (CCDC180) | NP_001334939.2:p.Pro820= | |
| NM_020893.6:c.2469A>G (CCDC180) MANE Select | NP_065944.3:p.Pro823= |