Linked Data
ClinVar Variation Id:
29624
ClinVar RCV Id:
RCV000022464
dbSNP Id:
rs387906600
PubMed:
PMID:21555619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174812441G>A , CM000664.2:g.174812441G>A | GRCh38 |
| NC_000002.11:g.175677169G>A , CM000664.1:g.175677169G>A | GRCh37 |
| NC_000002.10:g.175385415G>A | NCBI36 |
| NG_012642.1:g.198002C>T | |
| NG_012642.2:g.198002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.379C>T | ENSP00000295497.7:p.Pro127Ser | |
| ENST00000444394.7:c.379C>T | ENSP00000411911.2:p.Pro127Ser | |
| ENST00000295497.12:c.379C>T | ENSP00000295497.7:p.Pro127Ser | |
| ENST00000409089.7:c.130C>T | ENSP00000386322.3:p.Pro44Ser | |
| ENST00000409900.9:c.754C>T MANE Select | ENSP00000386741.4:p.Pro252Ser | |
| ENST00000413882.6:c.208C>T | ENSP00000410496.2:p.Pro70Ser | |
| ENST00000425395.6:c.*201C>T | ENSP00000405270.2:n.*201C>T | |
| ENST00000443238.6:c.232C>T | ENSP00000409798.2:p.Pro78Ser | |
| ENST00000444394.6:c.379C>T | ENSP00000411911.2:p.Pro127Ser | |
| ENST00000444573.2:c.649C>T | ENSP00000392603.2:p.Pro217Ser | |
| ENST00000488080.6:n.397C>T | ||
| ENST00000650731.1:c.79C>T | ENSP00000499146.1:p.Pro27Ser | |
| ENST00000650938.1:c.278C>T | ||
| ENST00000651246.1:c.346C>T | ENSP00000498484.1:p.Pro116Ser | |
| ENST00000651501.1:c.*201C>T | ENSP00000498894.1:n.*201C>T | |
| ENST00000651717.1:c.*30C>T | ENSP00000499124.1:n.*30C>T | |
| ENST00000652036.1:c.430C>T | ENSP00000499139.1:p.Pro144Ser | |
| ENST00000295497.11:c.379C>T | ENSP00000295497.7:p.Pro127Ser | |
| ENST00000409089.6:c.130C>T | ENSP00000386322.2:p.Pro44Ser | |
| ENST00000409156.7:c.676C>T | ENSP00000386470.3:p.Pro226Ser | |
| ENST00000409597.5:c.202C>T | ENSP00000386469.1:p.Pro68Ser | |
| ENST00000409900.7:c.754C>T | ENSP00000386741.3:p.Pro252Ser | |
| ENST00000413882.5:c.208C>T | ENSP00000410496.1:p.Pro70Ser | |
| ENST00000425395.5:c.*305C>T | ENSP00000405270.1:n.*305C>T | |
| ENST00000443238.5:c.232C>T | ENSP00000409798.1:p.Pro78Ser | |
| ENST00000444394.5:c.79C>T | ENSP00000411911.1:p.Pro27Ser | |
| ENST00000444573.1:c.430C>T | ENSP00000392603.1:p.Pro144Ser | |
| ENST00000485882.1:n.213C>T | ||
| ENST00000488080.5:n.605C>T | ||
| NM_001025201.3:c.676C>T | NP_001020372.2:p.Pro226Ser | |
| NM_001206602.1:c.379C>T | NP_001193531.1:p.Pro127Ser | |
| NM_001822.5:c.754C>T | NP_001813.1:p.Pro252Ser | |
| NR_038133.1:n.620C>T | ||
| NM_001025201.4:c.676C>T | NP_001020372.2:p.Pro226Ser | |
| NM_001206602.2:c.379C>T | NP_001193531.1:p.Pro127Ser | |
| NM_001371513.1:c.754C>T | NP_001358442.1:p.Pro252Ser | |
| NM_001371514.1:c.805C>T | NP_001358443.1:p.Pro269Ser | |
| NM_001822.7:c.754C>T MANE Select | NP_001813.1:p.Pro252Ser | |
| NR_038133.2:n.622C>T |