Linked Data
ClinVar Variation Id:
3777
ClinVar RCV Id:
RCV000003976
RCV000085913
RCV000400442
RCV000500113
RCV000623187
RCV000762872
RCV001375218
RCV001813946
dbSNP Id:
rs104894313
ExAC:
11:89017973 C / T
gnomAD v2:
11-89017973-C-T
gnomAD v3:
11-89284805-C-T
gnomAD v4:
11-89284805-C-T
MyVariant Identifiers:
chr11:g.89017973C>T (hg19)
chr11:g.89017973_89017976delinsTTCT (hg19)
chr11:g.89284805C>T (hg38)
PubMed:
PMID:1429711
PMID:1642278
PMID:1903591
PMID:1970634
PMID:5516239
PMID:9242509
PMID:11284711
PMID:12753405
PMID:18463683
PMID:18590551
PMID:18821858
PMID:19060277
PMID:19320745
PMID:19865097
PMID:20861488
PMID:21906913
PMID:22734612
PMID:23504663
PMID:23891399
PMID:24123366
PMID:25216246
PMID:26167114
PMID:26818737
PMID:27775880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284805C>T , CM000673.2:g.89284805C>T | GRCh38 |
| NC_000011.9:g.89017973C>T , CM000673.1:g.89017973C>T | GRCh37 |
| NC_000011.8:g.88657621C>T | NCBI36 |
| NG_008748.1:g.111934C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.1217C>T MANE Select | ENSP00000263321.4:p.Pro406Leu | |
| ENST00000263321.5:c.1217C>T | ENSP00000263321.4:p.Pro406Leu | |
| ENST00000528243.1:n.215C>T | ||
| NM_000372.4:c.1217C>T | NP_000363.1:p.Pro406Leu | |
| XM_011542970.1:c.1217C>T | XP_011541272.1:p.Pro406Leu | |
| XM_011542970.2:c.1217C>T | XP_011541272.1:p.Pro406Leu | |
| XR_001748321.1:n.2456+1229G>A | ||
| XR_001748322.1:n.2457+1229G>A | ||
| NM_000372.5:c.1217C>T MANE Select | NP_000363.1:p.Pro406Leu |