Linked Data
ClinVar Variation Id:
29623
ClinVar RCV Id:
RCV000022463
dbSNP Id:
rs387906599
ExAC:
2:175742695 G / A
gnomAD v2:
2-175742695-G-A
PubMed:
PMID:21555619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174877967G>A , CM000664.2:g.174877967G>A | GRCh38 |
| NC_000002.11:g.175742695G>A , CM000664.1:g.175742695G>A | GRCh37 |
| NC_000002.10:g.175450941G>A | NCBI36 |
| NG_012642.1:g.132476C>T | |
| NG_012642.2:g.132476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409900.9:c.422C>T MANE Select | ENSP00000386741.4:p.Pro141Leu | |
| ENST00000425395.6:c.105-31010C>T | ENSP00000405270.2:n.105-31010C>T | |
| ENST00000444573.2:c.266C>T | ENSP00000392603.2:p.Pro89Leu | |
| ENST00000451799.2:c.266C>T | ENSP00000416316.2:p.Pro89Leu | |
| ENST00000469597.2:c.*70C>T | ENSP00000498417.1:n.*70C>T | |
| ENST00000488080.6:n.115-2102C>T | ||
| ENST00000650734.1:c.*322C>T | ENSP00000498742.1:n.*322C>T | |
| ENST00000650770.1:c.*336C>T | ENSP00000499036.1:n.*336C>T | |
| ENST00000651063.1:n.473C>T | ||
| ENST00000651246.1:c.14C>T | ENSP00000498484.1:p.Pro5Leu | |
| ENST00000651315.1:c.14C>T | ENSP00000498692.1:p.Pro5Leu | |
| ENST00000651373.1:c.14C>T | ENSP00000499174.1:p.Pro5Leu | |
| ENST00000651501.1:c.105-31010C>T | ENSP00000498894.1:n.105-31010C>T | |
| ENST00000651580.1:c.266C>T | ENSP00000498631.1:p.Pro89Leu | |
| ENST00000651599.1:c.266C>T | ENSP00000498535.1:p.Pro89Leu | |
| ENST00000651803.1:c.*336C>T | ENSP00000499007.1:n.*336C>T | |
| ENST00000651971.1:c.*222C>T | ENSP00000499035.1:n.*222C>T | |
| ENST00000652154.1:n.398C>T | ||
| ENST00000652208.1:c.266C>T | ENSP00000498475.1:p.Pro89Leu | |
| ENST00000652434.1:c.383C>T | ENSP00000498549.1:p.Pro128Leu | |
| ENST00000652437.1:n.565C>T | ||
| ENST00000652674.1:c.14C>T | ENSP00000498599.1:p.Pro5Leu | |
| ENST00000652734.1:n.319C>T | ||
| ENST00000652756.1:c.266C>T | ENSP00000498281.1:p.Pro89Leu | |
| ENST00000652768.1:n.314C>T | ||
| ENST00000409156.7:c.422C>T | ENSP00000386470.3:p.Pro141Leu | |
| ENST00000409900.7:c.422C>T | ENSP00000386741.3:p.Pro141Leu | |
| ENST00000425395.5:c.*101-31010C>T | ENSP00000405270.1:n.*101-31010C>T | |
| ENST00000469597.1:n.527C>T | ||
| ENST00000488080.5:n.401-31010C>T | ||
| ENST00000490654.1:n.397C>T | ||
| NM_001025201.3:c.422C>T | NP_001020372.2:p.Pro141Leu | |
| NM_001822.5:c.422C>T | NP_001813.1:p.Pro141Leu | |
| NR_038133.1:n.416-31010C>T | ||
| NM_001025201.4:c.422C>T | NP_001020372.2:p.Pro141Leu | |
| NM_001371513.1:c.422C>T | NP_001358442.1:p.Pro141Leu | |
| NM_001371514.1:c.473C>T | NP_001358443.1:p.Pro158Leu | |
| NM_001822.7:c.422C>T MANE Select | NP_001813.1:p.Pro141Leu | |
| NR_038133.2:n.418-31010C>T |