Linked Data
ClinVar Variation Id:
2519248
dbSNP Id:
rs765598128
ExAC:
1:1470833 C / T
gnomAD v2:
1-1470833-C-T
gnomAD v3:
1-1535453-C-T
gnomAD v4:
1-1535453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535453C>T , CM000663.2:g.1535453C>T | GRCh38 |
| NC_000001.10:g.1470833C>T , CM000663.1:g.1470833C>T | GRCh37 |
| NC_000001.9:g.1460696C>T | NCBI36 |
| NG_041807.1:g.9908G>A | |
| NG_053035.1:g.28311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.428G>A MANE Select | ENSP00000368007.4:p.Arg143Gln | |
| ENST00000378733.8:c.428G>A | ENSP00000368007.4:p.Arg143Gln | |
| ENST00000425828.1:c.428G>A | ENSP00000400311.1:p.Arg143Gln | |
| NM_001114748.1:c.428G>A | NP_001108220.1:p.Arg143Gln | |
| NM_001114748.2:c.428G>A MANE Select | NP_001108220.1:p.Arg143Gln |