Linked Data
ClinVar Variation Id:
375419
ClinVar RCV Id:
RCV000497015
dbSNP Id:
rs374623109
ExAC:
11:30255300 C / T
gnomAD v2:
11-30255300-C-T
gnomAD v3:
11-30233753-C-T
gnomAD v4:
11-30233753-C-T
COSMIC:
COSM184969
PubMed:
PMID:28392474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30233753C>T , CM000673.2:g.30233753C>T | GRCh38 |
| NC_000011.9:g.30255300C>T , CM000673.1:g.30255300C>T | GRCh37 |
| NC_000011.8:g.30211876C>T | NCBI36 |
| NG_008144.1:g.7738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254122.8:c.343C>T (FSHB) | ENSP00000254122.3:p.Arg115Ter | |
| ENST00000533718.2:c.343C>T (FSHB) MANE Select | ENSP00000433424.1:p.Arg115Ter | |
| ENST00000254122.7:c.343C>T (FSHB) | ENSP00000254122.3:p.Arg115Ter | |
| ENST00000417547.1:c.343C>T (FSHB) | ENSP00000416606.1:p.Arg115Ter | |
| ENST00000533718.1:c.343C>T (FSHB) | ENSP00000433424.1:p.Arg115Ter | |
| NM_000510.2:c.343C>T (FSHB) | NP_000501.1:p.Arg115Ter | |
| NM_001018080.1:c.343C>T (FSHB) | NP_001018090.1:p.Arg115Ter | |
| XM_011519964.1:c.343C>T (FSHB) | XP_011518266.1:p.Arg115Ter | |
| XR_931152.1:n.463+83137G>A (ARL14EP-DT) | ||
| XR_931153.1:n.284+83137G>A (ARL14EP-DT) | ||
| XR_931152.2:n.463+83137G>A (ARL14EP-DT) | ||
| NM_000510.3:c.343C>T (FSHB) | NP_000501.1:p.Arg115Ter | |
| NM_001018080.2:c.343C>T (FSHB) | NP_001018090.1:p.Arg115Ter | |
| NM_000510.4:c.343C>T (FSHB) | NP_000501.1:p.Arg115Ter | |
| NM_001018080.3:c.343C>T (FSHB) | NP_001018090.1:p.Arg115Ter | |
| NM_001382289.1:c.343C>T (FSHB) MANE Select | NP_001369218.1:p.Arg115Ter |