Linked Data
dbSNP Id:
rs749862102
gnomAD v4:
9-97343471-C-T
MyVariant Identifiers:
chr9:g.100105753C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343471C>T , CM000671.2:g.97343471C>T | GRCh38 |
| NC_000009.11:g.100105753C>T , CM000671.1:g.100105753C>T | GRCh37 |
| NC_000009.10:g.99145574C>T | NCBI36 |
| NG_052792.1:g.41168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2406C>T (CCDC180) MANE Select | ENSP00000434727.2:p.Thr802= | |
| ENST00000460482.6:n.2740C>T (CCDC180) | ||
| ENST00000494917.6:n.2609C>T (CCDC180) | ||
| ENST00000528678.1:n.502C>T (CCDC180) | ||
| ENST00000529487.1:c.2538C>T (CCDC180) | ENSP00000434727.1:p.Thr846= | |
| ENST00000530011.1:n.236-5640C>T (CCDC180) | ||
| NM_020893.2:c.2538C>T (CCDC180) | NP_065944.2:p.Thr846= | |
| NR_036527.1:n.3961C>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.3961C>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3521C>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2529C>T (CCDC180) | NP_001334939.1:p.Thr843= | |
| NM_020893.3:c.2538C>T (CCDC180) | NP_065944.2:p.Thr846= | |
| NM_001348010.2:c.2529C>T (CCDC180) | NP_001334939.1:p.Thr843= | |
| NM_020893.4:c.2538C>T (CCDC180) | NP_065944.2:p.Thr846= | |
| NM_001348010.4:c.2397C>T (CCDC180) | NP_001334939.2:p.Thr799= | |
| NM_020893.6:c.2406C>T (CCDC180) MANE Select | NP_065944.3:p.Thr802= |