Linked Data
ClinVar Variation Id:
2817615
ClinVar RCV Id:
RCV003711337
dbSNP Id:
rs1561430797
gnomAD v2:
4-187115670-C-A
gnomAD v3:
4-186194516-C-A
gnomAD v4:
4-186194516-C-A
MyVariant Identifiers:
chr4:g.187115670C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194516C>A , CM000666.2:g.186194516C>A | GRCh38 |
| NC_000004.11:g.187115670C>A , CM000666.1:g.187115670C>A | GRCh37 |
| NC_000004.10:g.187352664C>A | NCBI36 |
| NG_007965.1:g.7997C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.231C>A MANE Select | ENSP00000368079.4:p.Ile77= | |
| ENST00000378802.4:c.231C>A | ENSP00000368079.4:p.Ile77= | |
| NM_207352.3:c.231C>A | NP_997235.3:p.Ile77= | |
| XM_005262935.2:c.231C>A | XP_005262992.1:p.Ile77= | |
| XM_005262935.4:c.231C>A | XP_005262992.1:p.Ile77= | |
| XM_017008037.1:c.-80C>A | XP_016863526.1:n.-80C>A | |
| NM_207352.4:c.231C>A MANE Select | NP_997235.3:p.Ile77= |