Linked Data
ClinVar Variation Id:
501099
dbSNP Id:
rs199587895
ExAC:
1:24140683 C / T
gnomAD v2:
1-24140683-C-T
gnomAD v3:
1-23814193-C-T
gnomAD v4:
1-23814193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23814193C>T , CM000663.2:g.23814193C>T | GRCh38 |
| NC_000001.10:g.24140683C>T , CM000663.1:g.24140683C>T | GRCh37 |
| NC_000001.9:g.24013270C>T | NCBI36 |
| NG_013061.1:g.16267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.494G>A MANE Select | ENSP00000363614.3:p.Arg165Gln | |
| ENST00000235958.4:c.132-5870G>A | ||
| ENST00000374487.6:c.*535G>A | ENSP00000363611.2:n.*535G>A | |
| ENST00000374490.7:c.494G>A | ENSP00000363614.3:p.Arg165Gln | |
| ENST00000436439.6:c.348+2482G>A | ENSP00000389281.2:n.348+2482G>A | |
| ENST00000479458.1:n.233G>A | ||
| ENST00000496907.1:n.129G>A | ||
| ENST00000509389.5:n.360+2482G>A | ||
| ENST00000513148.1:n.495G>A | ||
| NM_000191.2:c.494G>A | NP_000182.2:p.Arg165Gln | |
| NM_001166059.1:c.348+2482G>A | NP_001159531.1:n.348+2482G>A | |
| NM_000191.3:c.494G>A MANE Select | NP_000182.2:p.Arg165Gln | |
| NM_001166059.2:c.348+2482G>A | NP_001159531.1:n.348+2482G>A |