Linked Data
ClinVar Variation Id:
97509
dbSNP Id:
rs104895163
ExAC:
16:3293173 T / C
gnomAD v2:
16-3293173-T-C
gnomAD v3:
16-3243173-T-C
gnomAD v4:
16-3243173-T-C
MyVariant Identifiers:
chr16:g.3293173T>C (hg19)
chr16:g.3293173_3293177delinsCAGTC (hg19)
chr16:g.3243173T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243173T>C , CM000678.2:g.3243173T>C | GRCh38 |
| NC_000016.9:g.3293173T>C , CM000678.1:g.3293173T>C | GRCh37 |
| NC_000016.8:g.3233174T>C | NCBI36 |
| NG_007871.1:g.18455A>G , LRG_190:g.18455A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1435A>G | ||
| ENST00000219596.6:c.2314A>G MANE Select | ENSP00000219596.1:p.Ile772Val | |
| ENST00000219596.5:c.2314A>G | ENSP00000219596.1:p.Ile772Val | |
| ENST00000339854.8:c.1774A>G | ENSP00000339639.4:p.Ile592Val | |
| ENST00000536379.5:c.1681A>G | ENSP00000445079.1:p.Ile561Val | |
| ENST00000536980.5:c.*590A>G | ENSP00000444178.1:n.*590A>G | |
| ENST00000537682.5:c.*590A>G | ENSP00000438611.1:n.*590A>G | |
| ENST00000538326.5:c.*939A>G | ENSP00000437486.1:n.*939A>G | |
| ENST00000539145.5:c.1235A>G | ENSP00000444471.1:n.1235A>G | |
| ENST00000541159.5:c.1856A>G | ENSP00000438711.1:n.1856A>G | |
| ENST00000542898.5:c.*590A>G | ENSP00000444615.1:n.*590A>G | |
| ENST00000570511.5:c.1719A>G | ENSP00000458312.1:n.1719A>G | |
| ENST00000572244.5:c.1004A>G | ENSP00000461186.1:n.1004A>G | |
| ENST00000574583.5:c.1086A>G | ENSP00000460269.1:n.1086A>G | |
| ENST00000576315.5:c.1119A>G | ENSP00000460551.1:n.1119A>G | |
| ENST00000621655.1:c.1851A>G | ENSP00000481436.1:n.1851A>G | |
| NM_000243.2:c.2314A>G , LRG_190t1:c.2314A>G | NP_000234.1:p.Ile772Val | |
| NM_001198536.1:c.*518A>G | NP_001185465.1:n.*518A>G | |
| XM_017023236.2:c.2311A>G | XP_016878725.1:p.Ile771Val | |
| NM_000243.3:c.2314A>G MANE Select | NP_000234.1:p.Ile772Val | |
| NM_001198536.2:c.*518A>G | NP_001185465.2:n.*518A>G |