Linked Data
ClinVar Variation Id:
17016
ClinVar RCV Id:
RCV000018541
RCV000080369
RCV000146013
RCV000211772
RCV000409625
RCV000515450
RCV000678875
RCV001004391
RCV001109788
RCV001257157
RCV001762051
RCV001775068
RCV002227041
RCV003224102
dbSNP Id:
rs80338945
ExAC:
13:20763452 A / G
gnomAD v2:
13-20763452-A-G
gnomAD v3:
13-20189313-A-G
gnomAD v4:
13-20189313-A-G
PubMed:
PMID:10218527
PMID:10830906
PMID:11313763
PMID:12176036
PMID:12176179
PMID:12189487
PMID:12189493
PMID:12505163
PMID:14738110
PMID:14985372
PMID:15146474
PMID:15253766
PMID:16300957
PMID:16380907
PMID:17661817
PMID:19173109
PMID:19941053
PMID:20301449
PMID:22037723
PMID:22281373
PMID:23891399
PMID:25214170
PMID:25637381
PMID:26896187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189313A>G , CM000675.2:g.20189313A>G | GRCh38 |
| NC_000013.10:g.20763452A>G , CM000675.1:g.20763452A>G | GRCh37 |
| NC_000013.9:g.19661452A>G | NCBI36 |
| NG_008358.1:g.8663T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.269T>C | ENSP00000372295.1:p.Leu90Pro | |
| ENST00000382848.5:c.269T>C MANE Select | ENSP00000372299.4:p.Leu90Pro | |
| ENST00000382844.1:c.269T>C | ENSP00000372295.1:p.Leu90Pro | |
| ENST00000382848.4:c.269T>C | ENSP00000372299.4:p.Leu90Pro | |
| NM_004004.5:c.269T>C | NP_003995.2:p.Leu90Pro | |
| XM_011535049.1:c.269T>C | XP_011533351.1:p.Leu90Pro | |
| XM_011535049.2:c.269T>C | XP_011533351.1:p.Leu90Pro | |
| NM_004004.6:c.269T>C MANE Select | NP_003995.2:p.Leu90Pro |