Linked Data
ClinVar Variation Id:
5437
ClinVar RCV Id:
RCV000005770
dbSNP Id:
rs104894167
PubMed:
PMID:17296837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793207T>C , CM000672.2:g.93793207T>C | GRCh38 |
| NC_000010.10:g.95552964T>C , CM000672.1:g.95552964T>C | GRCh37 |
| NC_000010.9:g.95542954T>C | NCBI36 |
| NG_011832.1:g.40399T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371418.9:c.695T>C MANE Select | ENSP00000360472.4:p.Leu232Pro | |
| ENST00000485458.3:n.4671T>C | ||
| ENST00000635953.1:c.695T>C | ENSP00000490058.1:p.Leu232Pro | |
| ENST00000636155.1:c.695T>C | ENSP00000490355.1:p.Leu232Pro | |
| ENST00000636232.1:c.*481T>C | ENSP00000490325.1:n.*481T>C | |
| ENST00000636754.1:c.*537T>C | ENSP00000489781.1:n.*537T>C | |
| ENST00000636946.1:c.*864T>C | ENSP00000490654.1:n.*864T>C | |
| ENST00000637037.1:c.*285T>C | ENSP00000490860.1:n.*285T>C | |
| ENST00000637347.1:n.556T>C | ||
| ENST00000637611.1:c.*251T>C | ENSP00000489682.1:n.*251T>C | |
| ENST00000637689.1:c.-677T>C | ENSP00000490496.1:n.-677T>C | |
| ENST00000637925.1:c.*290T>C | ENSP00000489763.1:n.*290T>C | |
| ENST00000638049.1:c.*453T>C | ENSP00000490597.1:n.*453T>C | |
| ENST00000676175.1:n.2434T>C | ||
| ENST00000371413.4:c.695T>C | ENSP00000360467.3:p.Leu232Pro | |
| ENST00000371418.8:c.695T>C | ENSP00000360472.4:p.Leu232Pro | |
| ENST00000626307.1:n.4610T>C | ||
| ENST00000626946.1:n.365T>C | ||
| ENST00000627420.2:c.*404T>C | ENSP00000487116.1:n.*404T>C | |
| ENST00000629035.2:c.623T>C | ENSP00000486908.1:p.Leu208Pro | |
| ENST00000630047.2:c.551T>C | ENSP00000485917.1:p.Leu184Pro | |
| ENST00000630412.1:n.483T>C | ||
| ENST00000630487.2:c.*485T>C | ENSP00000486859.1:n.*485T>C | |
| NM_001308275.1:c.695T>C | NP_001295204.1:p.Leu232Pro | |
| NM_001308276.1:c.551T>C | NP_001295205.1:p.Leu184Pro | |
| NM_005097.2:c.695T>C | NP_005088.1:p.Leu232Pro | |
| NM_005097.3:c.695T>C | NP_005088.1:p.Leu232Pro | |
| NR_131777.1:n.959T>C | ||
| XM_017016911.2:c.695T>C | XP_016872400.1:p.Leu232Pro | |
| XM_017016912.2:c.551T>C | XP_016872401.1:p.Leu184Pro | |
| NM_005097.4:c.695T>C MANE Select | NP_005088.1:p.Leu232Pro | |
| NM_001308275.2:c.695T>C | NP_001295204.1:p.Leu232Pro | |
| NM_001308276.2:c.551T>C | NP_001295205.1:p.Leu184Pro | |
| NR_131777.2:n.832T>C |