Linked Data
ClinVar Variation Id:
1275323
ClinVar RCV Id:
RCV001679562
dbSNP Id:
rs10109853
ExAC:
8:39862881 C / T
gnomAD v2:
8-39862881-C-T
gnomAD v3:
8-40005362-C-T
gnomAD v4:
8-40005362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.40005362C>T , CM000670.2:g.40005362C>T | GRCh38 |
| NC_000008.10:g.39862881C>T , CM000670.1:g.39862881C>T | GRCh37 |
| NC_000008.9:g.39982038C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502986.4:c.703C>T MANE Select | ENSP00000443432.2:p.Arg235Trp | |
| ENST00000502986.3:c.703C>T | ENSP00000443432.2:p.Arg235Trp | |
| ENST00000343295.8:n.2971-8203C>T | ||
| ENST00000389060.8:c.703C>T | ENSP00000426447.1:p.Arg235Trp | |
| ENST00000418094.1:n.347-8203C>T | ||
| ENST00000502986.2:c.742C>T | ENSP00000443432.1:p.Arg248Trp | |
| NM_194294.2:c.742C>T | NP_919270.2:p.Arg248Trp | |
| NM_194294.3:c.742C>T | NP_919270.2:p.Arg248Trp | |
| NM_001395206.1:c.703C>T | NP_001382135.1:p.Arg235Trp | |
| NM_194294.5:c.703C>T MANE Select | NP_919270.3:p.Arg235Trp |