Linked Data
ClinVar Variation Id:
242986
dbSNP Id:
rs140263599
ExAC:
12:6952237 C / T
gnomAD v2:
12-6952237-C-T
gnomAD v3:
12-6843073-C-T
gnomAD v4:
12-6843073-C-T
PubMed:
PMID:27063057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843073C>T , CM000674.2:g.6843073C>T | GRCh38 |
| NC_000012.11:g.6952237C>T , CM000674.1:g.6952237C>T | GRCh37 |
| NC_000012.10:g.6822498C>T | NCBI36 |
| NG_009100.1:g.7863C>T | |
| NG_009100.2:g.7863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.200C>T MANE Select | ENSP00000229264.3:p.Ser67Phe | |
| ENST00000229264.7:c.200C>T | ENSP00000229264.3:p.Ser67Phe | |
| ENST00000435982.6:c.200C>T | ENSP00000414734.2:p.Ser67Phe | |
| ENST00000537035.1:c.200C>T | ENSP00000445967.1:p.Ser67Phe | |
| ENST00000539127.5:c.*220C>T | ENSP00000444325.1:n.*220C>T | |
| ENST00000540458.5:n.1551C>T | ||
| ENST00000541257.5:c.200C>T | ENSP00000442002.1:p.Ser67Phe | |
| ENST00000541978.5:c.200C>T | ENSP00000439753.2:p.Ser67Phe | |
| NM_001297571.1:c.200C>T | NP_001284500.1:p.Ser67Phe | |
| NM_002075.3:c.200C>T | NP_002066.1:p.Ser67Phe | |
| XM_011520953.1:c.200C>T | XP_011519255.1:p.Ser67Phe | |
| XM_011520954.1:c.200C>T | XP_011519256.1:p.Ser67Phe | |
| XM_011520953.3:c.200C>T | XP_011519255.1:p.Ser67Phe | |
| NM_001297571.2:c.200C>T | NP_001284500.1:p.Ser67Phe | |
| NM_002075.4:c.200C>T MANE Select | NP_002066.1:p.Ser67Phe |