Linked Data
ClinVar Variation Id:
161159
ClinVar RCV Id:
RCV000148340
dbSNP Id:
rs587784573
gnomAD v4:
12-14619304-A-G
PubMed:
PMID:25370039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14619304A>G , CM000674.2:g.14619304A>G | GRCh38 |
| NC_000012.11:g.14772238A>G , CM000674.1:g.14772238A>G | GRCh37 |
| NC_000012.10:g.14663505A>G | NCBI36 |
| NG_052021.1:g.82282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261170.5:c.2782T>C (GUCY2C) MANE Select | ENSP00000261170.3:p.Cys928Arg | |
| ENST00000261170.4:c.2782T>C (GUCY2C) | ENSP00000261170.3:p.Cys928Arg | |
| NM_004963.3:c.2782T>C (GUCY2C) | NP_004954.2:p.Cys928Arg | |
| NR_120465.1:n.499A>G (PLBD1-AS1) | ||
| XM_011520631.1:c.2536T>C (GUCY2C) | XP_011518933.1:p.Cys846Arg | |
| XM_011520631.2:c.2536T>C (GUCY2C) | XP_011518933.1:p.Cys846Arg | |
| XR_001748595.1:n.452A>G (C12orf60) | ||
| XR_001748596.1:n.452A>G (C12orf60) | ||
| XR_001748597.1:n.452A>G (C12orf60) | ||
| XR_001748598.2:n.452A>G (C12orf60) | ||
| XR_001748599.1:n.452A>G (C12orf60) | ||
| NM_004963.4:c.2782T>C (GUCY2C) MANE Select | NP_004954.2:p.Cys928Arg |