Linked Data
dbSNP Id:
rs577984845
ExAC:
9:100105736 A / G
gnomAD v2:
9-100105736-A-G
gnomAD v3:
9-97343454-A-G
gnomAD v4:
9-97343454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97343454A>G , CM000671.2:g.97343454A>G | GRCh38 |
| NC_000009.11:g.100105736A>G , CM000671.1:g.100105736A>G | GRCh37 |
| NC_000009.10:g.99145557A>G | NCBI36 |
| NG_052792.1:g.41151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529487.3:c.2389A>G (CCDC180) MANE Select | ENSP00000434727.2:p.Arg797Gly | |
| ENST00000460482.6:n.2723A>G (CCDC180) | ||
| ENST00000494917.6:n.2592A>G (CCDC180) | ||
| ENST00000528678.1:n.485A>G (CCDC180) | ||
| ENST00000529487.1:c.2521A>G (CCDC180) | ENSP00000434727.1:p.Arg841Gly | |
| ENST00000530011.1:n.236-5657A>G (CCDC180) | ||
| NM_020893.2:c.2521A>G (CCDC180) | NP_065944.2:p.Arg841Gly | |
| NR_036527.1:n.3944A>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036528.1:n.3944A>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NR_036529.1:n.3504A>G (SUGT1P4-STRA6LP-CCDC180) | ||
| NM_001348010.1:c.2512A>G (CCDC180) | NP_001334939.1:p.Arg838Gly | |
| NM_020893.3:c.2521A>G (CCDC180) | NP_065944.2:p.Arg841Gly | |
| NM_001348010.2:c.2512A>G (CCDC180) | NP_001334939.1:p.Arg838Gly | |
| NM_020893.4:c.2521A>G (CCDC180) | NP_065944.2:p.Arg841Gly | |
| NM_001348010.4:c.2380A>G (CCDC180) | NP_001334939.2:p.Arg794Gly | |
| NM_020893.6:c.2389A>G (CCDC180) MANE Select | NP_065944.3:p.Arg797Gly |