Linked Data
ClinVar Variation Id:
40092
dbSNP Id:
rs201850378
ExAC:
18:19395685 C / T
gnomAD v2:
18-19395685-C-T
gnomAD v3:
18-21815724-C-T
gnomAD v4:
18-21815724-C-T
PubMed:
PMID:23314057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21815724C>T , CM000680.2:g.21815724C>T | GRCh38 |
| NC_000018.9:g.19395685C>T , CM000680.1:g.19395685C>T | GRCh37 |
| NC_000018.8:g.17649683C>T | NCBI36 |
| NG_033272.2:g.115768C>T , LRG_759:g.115768C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261537.7:c.1588C>T MANE Select | ENSP00000261537.6:p.Arg530Ter | |
| ENST00000261537.6:c.1588C>T | ENSP00000261537.6:p.Arg530Ter | |
| ENST00000577749.5:n.573C>T | ||
| ENST00000578260.1:n.391C>T | ||
| ENST00000578646.5:n.1565C>T | ||
| NM_020774.3:c.1588C>T , LRG_759t1:c.1588C>T | NP_065825.1:p.Arg530Ter | |
| XM_011526098.1:c.118C>T | XP_011524400.1:p.Arg40Ter | |
| XM_017025873.1:c.1072C>T | XP_016881362.1:p.Arg358Ter | |
| NM_020774.4:c.1588C>T MANE Select | NP_065825.1:p.Arg530Ter |