Linked Data
ClinVar Variation Id:
642
ClinVar RCV Id:
RCV000000675
RCV000000676
RCV000023935
RCV000205002
RCV000454249
RCV000616414
RCV001095681
RCV001806997
RCV002399305
RCV003227589
RCV003493407
RCV003764502
dbSNP Id:
rs6025
gnomAD v3:
1-169549811-C-T
gnomAD v4:
1-169549811-C-T
MyVariant Identifiers:
chr1:g.169549811C>T (hg38)
PubMed:
PMID:7586244
PMID:7803250
PMID:7877648
PMID:7910348
PMID:7911872
PMID:8049422
PMID:8164730
PMID:8164741
PMID:8566967
PMID:8616100
PMID:8822583
PMID:9245936
PMID:9339109
PMID:9372726
PMID:9415695
PMID:9454741
PMID:9459326
PMID:9518910
PMID:9734642
PMID:10328130
PMID:10348711
PMID:10477778
PMID:10494770
PMID:10507841
PMID:10666427
PMID:11018168
PMID:11583312
PMID:11686338
PMID:14996674
PMID:15534175
PMID:15638861
PMID:16493002
PMID:21116184
PMID:23900608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169549811C>T , CM000663.2:g.169549811C>T | GRCh38 |
| NG_011806.1:g.41721G>A , LRG_553:g.41721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1601G>A MANE Select | ENSP00000356771.3:p.Arg534Gln | |
| ENST00000367796.3:c.1601G>A | ENSP00000356770.3:p.Arg534Gln | |
| ENST00000367797.7:c.1601G>A | ENSP00000356771.3:p.Arg534Gln | |
| NM_000130.4:c.1601G>A , LRG_553t1:c.1601G>A | NP_000121.2:p.Arg534Gln | |
| XM_017000660.2:c.1190G>A | XP_016856149.1:p.Arg397Gln | |
| NM_000130.5:c.1601G>A MANE Select | NP_000121.2:p.Arg534Gln |