Linked Data
dbSNP Id:
rs768496411
ExAC:
9:100105809 C / A
gnomAD v2:
9-100105809-C-A
gnomAD v4:
9-97343527-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343527C>A , CM000671.2:g.97343527C>A | GRCh38 |
| NC_000009.11:g.100105809C>A , CM000671.1:g.100105809C>A | GRCh37 |
| NC_000009.10:g.99145630C>A | NCBI36 |
| NG_052792.1:g.41224C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2462C>A (CCDC180) MANE Select | ENSP00000434727.2:p.Thr821Lys | |
| ENST00000460482.6:n.2796C>A (CCDC180) | ||
| ENST00000494917.6:n.2665C>A (CCDC180) | ||
| ENST00000528678.1:n.558C>A (CCDC180) | ||
| ENST00000529487.1:c.2594C>A (CCDC180) | ENSP00000434727.1:p.Thr865Lys | |
| ENST00000530011.1:n.236-5584C>A (CCDC180) | ||
| NM_020893.2:c.2594C>A (CCDC180) | NP_065944.2:p.Thr865Lys | |
| NR_036527.1:n.4017C>A (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.4017C>A (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3577C>A (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2585C>A (CCDC180) | NP_001334939.1:p.Thr862Lys | |
| NM_020893.3:c.2594C>A (CCDC180) | NP_065944.2:p.Thr865Lys | |
| NM_001348010.2:c.2585C>A (CCDC180) | NP_001334939.1:p.Thr862Lys | |
| NM_020893.4:c.2594C>A (CCDC180) | NP_065944.2:p.Thr865Lys | |
| NM_001348010.4:c.2453C>A (CCDC180) | NP_001334939.2:p.Thr818Lys | |
| NM_020893.6:c.2462C>A (CCDC180) MANE Select | NP_065944.3:p.Thr821Lys |