Linked Data
ClinVar Variation Id:
729
dbSNP Id:
rs11544803
ExAC:
5:132202707 C / T
gnomAD v2:
5-132202707-C-T
gnomAD v3:
5-132867015-C-T
gnomAD v4:
5-132867015-C-T
PubMed:
PMID:18439546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132867015C>T , CM000667.2:g.132867015C>T | GRCh38 |
| NC_000005.9:g.132202707C>T , CM000667.1:g.132202707C>T | GRCh37 |
| NC_000005.8:g.132230606C>T | NCBI36 |
| NG_012221.1:g.5389C>T | |
| NG_047051.1:g.4870G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378670.8:c.134C>T MANE Select | ENSP00000367939.3:p.Ser45Phe | |
| ENST00000378665.1:c.134C>T | ENSP00000367934.1:p.Ser45Phe | |
| ENST00000378667.1:c.134C>T | ENSP00000367936.1:p.Ser45Phe | |
| ENST00000378670.7:c.134C>T | ENSP00000367939.3:p.Ser45Phe | |
| ENST00000480372.1:n.182C>T | ||
| ENST00000496429.1:n.46+328C>T | ||
| ENST00000498309.1:n.202C>T | ||
| NM_014402.4:c.134C>T | NP_055217.2:p.Ser45Phe | |
| NM_014402.5:c.134C>T MANE Select | NP_055217.2:p.Ser45Phe |