Linked Data
ClinVar Variation Id:
310084
dbSNP Id:
rs111240043
ExAC:
12:6167148 G / A
gnomAD v2:
12-6167148-G-A
gnomAD v3:
12-6057982-G-A
gnomAD v4:
12-6057982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6057982G>A , CM000674.2:g.6057982G>A | GRCh38 |
| NC_000012.11:g.6167148G>A , CM000674.1:g.6167148G>A | GRCh37 |
| NC_000012.10:g.6037409G>A | NCBI36 |
| NG_009072.1:g.71689C>T | |
| NG_009072.2:g.71689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1596C>T MANE Select | ENSP00000261405.5:p.Gly532= | |
| ENST00000261405.9:c.1596C>T | ENSP00000261405.5:p.Gly532= | |
| ENST00000538635.5:n.420+52533C>T | ||
| NM_000552.3:c.1596C>T | NP_000543.2:p.Gly532= | |
| NM_000552.4:c.1596C>T | NP_000543.2:p.Gly532= | |
| NM_000552.5:c.1596C>T MANE Select | NP_000543.3:p.Gly532= |