Linked Data
ClinVar Variation Id:
15126
ClinVar RCV Id:
RCV000016284
RCV000016285
RCV000202507
RCV000224028
RCV000576347
RCV001535943
RCV001813746
RCV002415418
RCV002288494
RCV003335041
RCV003137529
RCV003150807
RCV004017254
dbSNP Id:
rs33930165
ExAC:
11:5248233 C / T
gnomAD v2:
11-5248233-C-T
gnomAD v3:
11-5227003-C-T
gnomAD v4:
11-5227003-C-T
MyVariant Identifiers:
chr11:g.5248233C>T (hg19)
chr11:g.5248233_5248235delinsTAG (hg19)
chr11:g.5227003C>T (hg38)
PubMed:
PMID:1680789
PMID:2239966
PMID:2412200
PMID:2888754
PMID:7137165
PMID:7229029
PMID:8201467
PMID:8294201
PMID:9556665
PMID:11001883
PMID:11713529
PMID:13108995
PMID:13115700
PMID:13618691
PMID:13685866
PMID:14405428
PMID:14492555
PMID:14613965
PMID:14808148
PMID:15000665
PMID:15973412
PMID:16175509
PMID:17774955
PMID:18048408
PMID:19061217
PMID:20301551
PMID:20305663
PMID:22028795
PMID:22075726
PMID:23297836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227003C>T , CM000673.2:g.5227003C>T | GRCh38 |
| NC_000011.9:g.5248233C>T , CM000673.1:g.5248233C>T | GRCh37 |
| NC_000011.8:g.5204809C>T | NCBI36 |
| NG_000007.3:g.70613G>A | |
| NG_059281.1:g.5069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.19G>A | ENSP00000494175.1:p.Glu7Lys | |
| ENST00000335295.4:c.19G>A MANE Select | ENSP00000333994.3:p.Glu7Lys | |
| ENST00000380315.2:c.19G>A | ENSP00000369671.2:p.Glu7Lys | |
| ENST00000485743.1:n.70G>A | ||
| ENST00000633227.1:c.19G>A | ENSP00000488004.1:p.Glu7Lys | |
| NM_000518.4:c.19G>A | NP_000509.1:p.Glu7Lys | |
| NM_000518.5:c.19G>A MANE Select | NP_000509.1:p.Glu7Lys |