Linked Data
dbSNP Id:
rs778250599
ExAC:
9:100105764 T / C
gnomAD v2:
9-100105764-T-C
gnomAD v3:
9-97343482-T-C
gnomAD v4:
9-97343482-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343482T>C , CM000671.2:g.97343482T>C | GRCh38 |
| NC_000009.11:g.100105764T>C , CM000671.1:g.100105764T>C | GRCh37 |
| NC_000009.10:g.99145585T>C | NCBI36 |
| NG_052792.1:g.41179T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2417T>C (CCDC180) MANE Select | ENSP00000434727.2:p.Met806Thr | |
| ENST00000460482.6:n.2751T>C (CCDC180) | ||
| ENST00000494917.6:n.2620T>C (CCDC180) | ||
| ENST00000528678.1:n.513T>C (CCDC180) | ||
| ENST00000529487.1:c.2549T>C (CCDC180) | ENSP00000434727.1:p.Met850Thr | |
| ENST00000530011.1:n.236-5629T>C (CCDC180) | ||
| NM_020893.2:c.2549T>C (CCDC180) | NP_065944.2:p.Met850Thr | |
| NR_036527.1:n.3972T>C (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.3972T>C (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3532T>C (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2540T>C (CCDC180) | NP_001334939.1:p.Met847Thr | |
| NM_020893.3:c.2549T>C (CCDC180) | NP_065944.2:p.Met850Thr | |
| NM_001348010.2:c.2540T>C (CCDC180) | NP_001334939.1:p.Met847Thr | |
| NM_020893.4:c.2549T>C (CCDC180) | NP_065944.2:p.Met850Thr | |
| NM_001348010.4:c.2408T>C (CCDC180) | NP_001334939.2:p.Met803Thr | |
| NM_020893.6:c.2417T>C (CCDC180) MANE Select | NP_065944.3:p.Met806Thr |