Linked Data
ClinVar Variation Id:
379706
ClinVar RCV Id:
RCV000437379
dbSNP Id:
rs1057520701
gnomAD v2:
12-14792867-C-A
gnomAD v4:
12-14639933-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14639933C>A , CM000674.2:g.14639933C>A | GRCh38 |
| NC_000012.11:g.14792867C>A , CM000674.1:g.14792867C>A | GRCh37 |
| NC_000012.10:g.14684134C>A | NCBI36 |
| NG_052021.1:g.61653G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261170.5:c.2086G>T (GUCY2C) MANE Select | ENSP00000261170.3:p.Glu696Ter | |
| ENST00000261170.4:c.2086G>T (GUCY2C) | ENSP00000261170.3:p.Glu696Ter | |
| NM_004963.3:c.2086G>T (GUCY2C) | NP_004954.2:p.Glu696Ter | |
| XM_011520631.1:c.1840G>T (GUCY2C) | XP_011518933.1:p.Glu614Ter | |
| XM_011520631.2:c.1840G>T (GUCY2C) | XP_011518933.1:p.Glu614Ter | |
| XR_001748595.1:n.700+20017C>A (C12orf60) | ||
| XR_001748596.1:n.700+20017C>A (C12orf60) | ||
| XR_001748597.1:n.700+20017C>A (C12orf60) | ||
| XR_001748598.2:n.700+20017C>A (C12orf60) | ||
| XR_001748599.1:n.701-10998C>A (C12orf60) | ||
| NM_004963.4:c.2086G>T (GUCY2C) MANE Select | NP_004954.2:p.Glu696Ter |