Linked Data
ClinVar Variation Id:
2198600
ClinVar RCV Id:
RCV002629510
dbSNP Id:
rs769805453
ExAC:
3:52360280 G / C
gnomAD v2:
3-52360280-G-C
gnomAD v3:
3-52326264-G-C
gnomAD v4:
3-52326264-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52326264G>C , CM000665.2:g.52326264G>C | GRCh38 |
| NC_000003.11:g.52360280G>C , CM000665.1:g.52360280G>C | GRCh37 |
| NC_000003.10:g.52335320G>C | NCBI36 |
| NG_052911.1:g.14946G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.531G>C MANE Select | ENSP00000401514.2:p.Val177= | |
| ENST00000420323.6:c.531G>C | ENSP00000401514.2:p.Val177= | |
| ENST00000486752.5:n.792G>C | ||
| ENST00000497875.1:n.696G>C | ||
| NM_015512.4:c.531G>C | NP_056327.4:p.Val177= | |
| XM_011533577.1:c.531G>C | XP_011531879.1:p.Val177= | |
| XM_017006129.1:c.531G>C | XP_016861618.1:p.Val177= | |
| XM_017006130.1:c.531G>C | XP_016861619.1:p.Val177= | |
| XM_017006131.1:c.531G>C | XP_016861620.1:p.Val177= | |
| XM_017006132.1:c.531G>C | XP_016861621.1:p.Val177= | |
| XM_017006133.1:c.531G>C | XP_016861622.1:p.Val177= | |
| XR_001740098.1:n.3680G>C | ||
| XR_001740099.1:n.3680G>C | ||
| NM_015512.5:c.531G>C MANE Select | NP_056327.4:p.Val177= |