Linked Data
ClinVar Variation Id:
1430718
ClinVar RCV Id:
RCV001971902
dbSNP Id:
rs1568810690
gnomAD v4:
21-31667305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667305C>T , CM000683.2:g.31667305C>T | GRCh38 |
| NC_000021.8:g.33039618C>T , CM000683.1:g.33039618C>T | GRCh37 |
| NC_000021.7:g.31961489C>T | NCBI36 |
| NG_008689.1:g.12684C>T , LRG_652:g.12684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.287C>T MANE Select | ENSP00000270142.7:p.Ala96Val | |
| ENST00000270142.10:c.287C>T | ENSP00000270142.6:p.Ala96Val | |
| ENST00000389995.4:c.230C>T | ENSP00000374645.4:p.Ala77Val | |
| ENST00000470944.1:n.1215C>T | ||
| ENST00000476106.5:n.550C>T | ||
| NM_000454.4:c.287C>T , LRG_652t1:c.287C>T | NP_000445.1:p.Ala96Val | |
| NM_000454.5:c.287C>T MANE Select | NP_000445.1:p.Ala96Val |