Linked Data
ClinVar Variation Id:
1035643
ClinVar RCV Id:
RCV001338536
dbSNP Id:
rs575956298
ExAC:
17:40688337 C / T
gnomAD v2:
17-40688337-C-T
gnomAD v3:
17-42536319-C-T
gnomAD v4:
17-42536319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536319C>T , CM000679.2:g.42536319C>T | GRCh38 |
| NC_000017.10:g.40688337C>T , CM000679.1:g.40688337C>T | GRCh37 |
| NC_000017.9:g.37941863C>T | NCBI36 |
| NG_011552.1:g.5387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.47C>T MANE Select | ENSP00000225927.1:p.Ala16Val | |
| ENST00000225927.6:c.47C>T | ENSP00000225927.1:p.Ala16Val | |
| NM_000263.3:c.47C>T | NP_000254.2:p.Ala16Val | |
| XM_024450771.1:c.47C>T | XP_024306539.1:p.Ala16Val | |
| NM_000263.4:c.47C>T MANE Select | NP_000254.2:p.Ala16Val |