Linked Data
ClinVar Variation Id:
204071
ClinVar RCV Id:
RCV000186277
dbSNP Id:
rs180177268
PubMed:
PMID:17460142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868942T>C , CM000664.2:g.240868942T>C | GRCh38 |
| NC_000002.11:g.241808359T>C , CM000664.1:g.241808359T>C | GRCh37 |
| NC_000002.10:g.241457032T>C | NCBI36 |
| NG_008005.1:g.5198T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.77T>C MANE Select | ENSP00000302620.3:p.Leu26Pro | |
| ENST00000307503.3:c.77T>C | ENSP00000302620.3:p.Leu26Pro | |
| ENST00000472436.1:n.97T>C | ||
| NM_000030.2:c.77T>C | NP_000021.1:p.Leu26Pro | |
| XR_924060.1:n.405+1291A>G | ||
| NM_000030.3:c.77T>C MANE Select | NP_000021.1:p.Leu26Pro |