Linked Data
ClinVar Variation Id:
204068
ClinVar RCV Id:
RCV000186274
dbSNP Id:
rs180177191
ExAC:
2:241808310 C / T
gnomAD v2:
2-241808310-C-T
gnomAD v3:
2-240868893-C-T
gnomAD v4:
2-240868893-C-T
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868893C>T , CM000664.2:g.240868893C>T | GRCh38 |
| NC_000002.11:g.241808310C>T , CM000664.1:g.241808310C>T | GRCh37 |
| NC_000002.10:g.241456983C>T | NCBI36 |
| NG_008005.1:g.5149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.28C>T MANE Select | ENSP00000302620.3:p.Pro10Ser | |
| ENST00000307503.3:c.28C>T | ENSP00000302620.3:p.Pro10Ser | |
| ENST00000472436.1:n.48C>T | ||
| NM_000030.2:c.28C>T | NP_000021.1:p.Pro10Ser | |
| XR_924060.1:n.405+1340G>A | ||
| NM_000030.3:c.28C>T MANE Select | NP_000021.1:p.Pro10Ser |