Linked Data
ClinVar Variation Id:
11957
dbSNP Id:
rs121964997
ExAC:
1:24147022 C / T
gnomAD v2:
1-24147022-C-T
gnomAD v3:
1-23820532-C-T
gnomAD v4:
1-23820532-C-T
COSMIC:
COSM288878
PubMed:
PMID:9463337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23820532C>T , CM000663.2:g.23820532C>T | GRCh38 |
| NC_000001.10:g.24147022C>T , CM000663.1:g.24147022C>T | GRCh37 |
| NC_000001.9:g.24019609C>T | NCBI36 |
| NG_013061.1:g.9928G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374490.8:c.122G>A MANE Select | ENSP00000363614.3:p.Arg41Gln | |
| ENST00000235958.4:c.109G>A | ||
| ENST00000374487.6:c.*163G>A | ENSP00000363611.2:n.*163G>A | |
| ENST00000374490.7:c.122G>A | ENSP00000363614.3:p.Arg41Gln | |
| ENST00000436439.6:c.122G>A | ENSP00000389281.2:p.Arg41Gln | |
| ENST00000509389.5:n.134G>A | ||
| ENST00000513148.1:n.123G>A | ||
| NM_000191.2:c.122G>A | NP_000182.2:p.Arg41Gln | |
| NM_001166059.1:c.122G>A | NP_001159531.1:p.Arg41Gln | |
| NM_000191.3:c.122G>A MANE Select | NP_000182.2:p.Arg41Gln | |
| NM_001166059.2:c.122G>A | NP_001159531.1:p.Arg41Gln |