Linked Data
ClinVar Variation Id:
204118
dbSNP Id:
rs180177248
ExAC:
2:241813413 C / T
gnomAD v2:
2-241813413-C-T
gnomAD v4:
2-240873996-C-T
COSMIC:
COSM4939441
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873996C>T , CM000664.2:g.240873996C>T | GRCh38 |
| NC_000002.11:g.241813413C>T , CM000664.1:g.241813413C>T | GRCh37 |
| NC_000002.10:g.241462086C>T | NCBI36 |
| NG_008005.1:g.10252C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.614C>T MANE Select | ENSP00000302620.3:p.Ser205Leu | |
| ENST00000307503.3:c.614C>T | ENSP00000302620.3:p.Ser205Leu | |
| ENST00000476698.1:n.332+947C>T | ||
| NM_000030.2:c.614C>T | NP_000021.1:p.Ser205Leu | |
| NM_000030.3:c.614C>T MANE Select | NP_000021.1:p.Ser205Leu |