Linked Data
ClinVar Variation Id:
296851
ClinVar RCV Id:
RCV000323505
dbSNP Id:
rs886046313
gnomAD v4:
1-23808255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23808255G>A , CM000663.2:g.23808255G>A | GRCh38 |
| NC_000001.10:g.24134745G>A , CM000663.1:g.24134745G>A | GRCh37 |
| NC_000001.9:g.24007332G>A | NCBI36 |
| NG_013061.1:g.22205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.630C>T MANE Select | ENSP00000363614.3:p.Thr210= | |
| ENST00000235958.4:c.200C>T | ||
| ENST00000374487.6:c.*671C>T | ENSP00000363611.2:n.*671C>T | |
| ENST00000374490.7:c.630C>T | ENSP00000363614.3:p.Thr210= | |
| ENST00000436439.6:c.417C>T | ENSP00000389281.2:p.Thr139= | |
| ENST00000496907.1:n.265C>T | ||
| ENST00000509389.5:n.361-40C>T | ||
| NM_000191.2:c.630C>T | NP_000182.2:p.Thr210= | |
| NM_001166059.1:c.417C>T | NP_001159531.1:p.Thr139= | |
| NM_000191.3:c.630C>T MANE Select | NP_000182.2:p.Thr210= | |
| NM_001166059.2:c.417C>T | NP_001159531.1:p.Thr139= |