Linked Data
ClinVar Variation Id:
221270
ClinVar RCV Id:
RCV000207037
dbSNP Id:
rs869025273
gnomAD v4:
10-49234-C-T
PubMed:
PMID:26789871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49234C>T , CM000672.2:g.49234C>T | GRCh38 |
| NC_000010.10:g.95174C>T , CM000672.1:g.95174C>T | GRCh37 |
| NC_000010.9:g.85174C>T | NCBI36 |
| NG_046777.1:g.32222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568584.6:c.5G>A MANE Select | ENSP00000456206.2:p.Arg2Lys | |
| ENST00000561967.1:c.5G>A | ENSP00000454878.1:p.Arg2Lys | |
| ENST00000562809.1:c.5G>A | ENSP00000456899.1:p.Arg2Lys | |
| ENST00000563456.1:n.36G>A | ||
| ENST00000564130.2:c.-20+174G>A | ENSP00000457610.1:n.-20+174G>A | |
| ENST00000567466.1:c.-20+174G>A | ENSP00000454914.1:n.-20+174G>A | |
| ENST00000568584.5:c.5G>A | ENSP00000456206.1:p.Arg2Lys | |
| ENST00000568866.5:c.5G>A | ENSP00000457062.1:p.Arg2Lys | |
| NM_177987.2:c.5G>A | NP_817124.1:p.Arg2Lys | |
| XM_011519458.1:c.-159-322G>A | XP_011517760.1:n.-159-322G>A | |
| XM_011519459.1:c.-160+174G>A | XP_011517761.1:n.-160+174G>A | |
| XM_011519459.3:c.-160+174G>A | XP_011517761.1:n.-160+174G>A | |
| NM_177987.3:c.5G>A MANE Select | NP_817124.1:p.Arg2Lys | |
| NM_001389618.1:c.-160+174G>A | NP_001376547.1:n.-160+174G>A | |
| NM_001389619.1:c.-160+174G>A | NP_001376548.1:n.-160+174G>A |