Linked Data
dbSNP Id:
rs1228568071
gnomAD v2:
9-100105667-A-T
gnomAD v3:
9-97343385-A-T
gnomAD v4:
9-97343385-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343385A>T , CM000671.2:g.97343385A>T | GRCh38 |
| NC_000009.11:g.100105667A>T , CM000671.1:g.100105667A>T | GRCh37 |
| NC_000009.10:g.99145488A>T | NCBI36 |
| NG_052792.1:g.41082A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2320A>T (CCDC180) MANE Select | ENSP00000434727.2:p.Met774Leu | |
| ENST00000460482.6:n.2654A>T (CCDC180) | ||
| ENST00000494917.6:n.2523A>T (CCDC180) | ||
| ENST00000528678.1:n.416A>T (CCDC180) | ||
| ENST00000529487.1:c.2452A>T (CCDC180) | ENSP00000434727.1:p.Met818Leu | |
| ENST00000530011.1:n.236-5726A>T (CCDC180) | ||
| NM_020893.2:c.2452A>T (CCDC180) | NP_065944.2:p.Met818Leu | |
| NR_036527.1:n.3875A>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.3875A>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3435A>T (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2443A>T (CCDC180) | NP_001334939.1:p.Met815Leu | |
| NM_020893.3:c.2452A>T (CCDC180) | NP_065944.2:p.Met818Leu | |
| NM_001348010.2:c.2443A>T (CCDC180) | NP_001334939.1:p.Met815Leu | |
| NM_020893.4:c.2452A>T (CCDC180) | NP_065944.2:p.Met818Leu | |
| NM_001348010.4:c.2311A>T (CCDC180) | NP_001334939.2:p.Met771Leu | |
| NM_020893.6:c.2320A>T (CCDC180) MANE Select | NP_065944.3:p.Met774Leu |