Linked Data
ClinVar Variation Id:
2547
ClinVar RCV Id:
RCV000002656
RCV000213470
RCV000415431
RCV000508192
RCV000622573
RCV000768021
RCV001270033
RCV002262546
RCV003224087
RCV003389035
dbSNP Id:
rs104895094
ExAC:
16:3293403 T / C
gnomAD v2:
16-3293403-T-C
gnomAD v3:
16-3243403-T-C
gnomAD v4:
16-3243403-T-C
MyVariant Identifiers:
chr16:g.3293403T>C (hg19)
chr16:g.3293403_3293406delinsCTCA (hg19)
chr16:g.3243403T>C (hg38)
PubMed:
PMID:4015155
PMID:5340644
PMID:9288758
PMID:9668175
PMID:10612841
PMID:11468188
PMID:15868622
PMID:16730661
PMID:16785446
PMID:20041150
PMID:20301405
PMID:20485448
PMID:21246368
PMID:21413889
PMID:22878273
PMID:23588594
PMID:23891399
PMID:24251727
PMID:24424166
PMID:24469716
PMID:24929125
PMID:25760918
PMID:28386255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243403T>C , CM000678.2:g.3243403T>C | GRCh38 |
| NC_000016.9:g.3293403T>C , CM000678.1:g.3293403T>C | GRCh37 |
| NC_000016.8:g.3233404T>C | NCBI36 |
| NG_007871.1:g.18225A>G , LRG_190:g.18225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1205A>G | ||
| ENST00000219596.6:c.2084A>G MANE Select | ENSP00000219596.1:p.Lys695Arg | |
| ENST00000219596.5:c.2084A>G | ENSP00000219596.1:p.Lys695Arg | |
| ENST00000339854.8:c.1544A>G | ENSP00000339639.4:p.Lys515Arg | |
| ENST00000536379.5:c.1451A>G | ENSP00000445079.1:p.Lys484Arg | |
| ENST00000536980.5:c.*360A>G | ENSP00000444178.1:n.*360A>G | |
| ENST00000537682.5:c.*360A>G | ENSP00000438611.1:n.*360A>G | |
| ENST00000538326.5:c.*709A>G | ENSP00000437486.1:n.*709A>G | |
| ENST00000539145.5:c.1005A>G | ENSP00000444471.1:n.1005A>G | |
| ENST00000541159.5:c.1626A>G | ENSP00000438711.1:n.1626A>G | |
| ENST00000542898.5:c.*360A>G | ENSP00000444615.1:n.*360A>G | |
| ENST00000570511.5:c.1489A>G | ENSP00000458312.1:n.1489A>G | |
| ENST00000572244.5:c.774A>G | ENSP00000461186.1:n.774A>G | |
| ENST00000574583.5:c.856A>G | ENSP00000460269.1:n.856A>G | |
| ENST00000576315.5:c.889A>G | ENSP00000460551.1:n.889A>G | |
| ENST00000621655.1:c.1621A>G | ENSP00000481436.1:n.1621A>G | |
| NM_000243.2:c.2084A>G , LRG_190t1:c.2084A>G | NP_000234.1:p.Lys695Arg | |
| NM_001198536.1:c.*288A>G | NP_001185465.1:n.*288A>G | |
| XM_017023236.2:c.2081A>G | XP_016878725.1:p.Lys694Arg | |
| NM_000243.3:c.2084A>G MANE Select | NP_000234.1:p.Lys695Arg | |
| NM_001198536.2:c.*288A>G | NP_001185465.2:n.*288A>G |