Linked Data
ClinVar Variation Id:
64563
ClinVar RCV Id:
RCV000054750
dbSNP Id:
rs200222886
gnomAD v4:
22-19176628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176628C>T , CM000684.2:g.19176628C>T | GRCh38 |
| NC_000022.10:g.19164141C>T , CM000684.1:g.19164141C>T | GRCh37 |
| NC_000022.9:g.17544141C>T | NCBI36 |
| NG_033863.1:g.7236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.697G>A MANE Select | ENSP00000215882.5:p.Ala233Thr | |
| ENST00000215882.9:c.697G>A | ENSP00000215882.5:p.Ala233Thr | |
| ENST00000451283.5:c.388G>A | ENSP00000401480.1:p.Ala130Thr | |
| ENST00000470922.5:n.839G>A | ||
| NM_001256534.1:c.718G>A | NP_001243463.1:p.Ala240Thr | |
| NM_001287387.1:c.388G>A | NP_001274316.1:p.Ala130Thr | |
| NM_005984.4:c.697G>A | NP_005975.1:p.Ala233Thr | |
| NR_046298.2:n.748G>A | ||
| NM_005984.5:c.697G>A MANE Select | NP_005975.1:p.Ala233Thr | |
| NM_001256534.2:c.718G>A | NP_001243463.1:p.Ala240Thr | |
| NM_001287387.2:c.388G>A | NP_001274316.1:p.Ala130Thr | |
| NR_046298.3:n.621G>A |