Linked Data
ClinVar Variation Id:
11958
ClinVar RCV Id:
RCV000012736
dbSNP Id:
rs121964998
gnomAD v4:
1-23804441-C-T
PubMed:
PMID:11129331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23804441C>T , CM000663.2:g.23804441C>T | GRCh38 |
| NC_000001.10:g.24130931C>T , CM000663.1:g.24130931C>T | GRCh37 |
| NC_000001.9:g.24003518C>T | NCBI36 |
| NG_007068.1:g.1364G>A | |
| NG_013061.1:g.26019G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374490.8:c.835G>A MANE Select | ENSP00000363614.3:p.Glu279Lys | |
| ENST00000235958.4:c.405G>A | ||
| ENST00000374487.6:c.*876G>A | ENSP00000363611.2:n.*876G>A | |
| ENST00000374490.7:c.835G>A | ENSP00000363614.3:p.Glu279Lys | |
| ENST00000436439.6:c.622G>A | ENSP00000389281.2:p.Glu208Lys | |
| ENST00000509389.5:n.526G>A | ||
| NM_000191.2:c.835G>A | NP_000182.2:p.Glu279Lys | |
| NM_001166059.1:c.622G>A | NP_001159531.1:p.Glu208Lys | |
| NM_000191.3:c.835G>A MANE Select | NP_000182.2:p.Glu279Lys | |
| NM_001166059.2:c.622G>A | NP_001159531.1:p.Glu208Lys |