Linked Data
ClinVar Variation Id:
7826
dbSNP Id:
rs121909226
COSMIC:
COSM5108
ERepo:
CA000350/MONDO:0017623/003
PubMed:
PMID:9832031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87925557T>C , CM000672.2:g.87925557T>C | GRCh38 |
| NC_000010.10:g.89685314T>C , CM000672.1:g.89685314T>C | GRCh37 |
| NC_000010.9:g.89675294T>C | NCBI36 |
| NG_007466.2:g.67119T>C , LRG_311:g.67119T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.209T>C | ENSP00000514759.2:p.Leu70Pro | |
| ENST00000710265.1:c.209T>C | ENSP00000518161.1:p.Leu70Pro | |
| ENST00000472832.3:c.209T>C | ENSP00000483066.2:p.Leu70Pro | |
| ENST00000688158.2:n.944T>C | ||
| ENST00000688922.2:c.209T>C | ENSP00000508742.2:p.Leu70Pro | |
| ENST00000700021.1:c.165-5489T>C | ENSP00000514757.1:n.165-5489T>C | |
| ENST00000700022.1:c.209T>C | ENSP00000514758.1:p.Leu70Pro | |
| ENST00000700029.1:c.43T>C | ||
| ENST00000706954.1:c.209T>C | ENSP00000516674.1:p.Leu70Pro | |
| ENST00000706955.1:c.*244T>C | ENSP00000516675.1:n.*244T>C | |
| ENST00000686459.1:c.209T>C | ENSP00000508909.1:p.Leu70Pro | |
| ENST00000688158.1:c.*320T>C | ENSP00000509254.1:n.*320T>C | |
| ENST00000688308.1:c.209T>C | ENSP00000508752.1:p.Leu70Pro | |
| ENST00000688922.1:c.78T>C | ||
| ENST00000693560.1:c.728T>C | ENSP00000509861.1:p.Leu243Pro | |
| ENST00000371953.8:c.209T>C MANE Select | ENSP00000361021.3:p.Leu70Pro | |
| ENST00000371953.7:c.209T>C | ENSP00000361021.3:p.Leu70Pro | |
| ENST00000498703.1:n.35T>C | ||
| ENST00000610634.1:c.107T>C | ENSP00000477517.1:p.Leu36Pro | |
| NM_000314.5:c.209T>C | NP_000305.3:p.Leu70Pro | |
| NM_000314.6:c.209T>C | NP_000305.3:p.Leu70Pro | |
| NM_001304717.2:c.728T>C | NP_001291646.2:p.Leu243Pro | |
| NM_001304718.1:c.-541-5489T>C | NP_001291647.1:n.-541-5489T>C | |
| XM_006717926.2:c.165-5489T>C | XP_006717989.1:n.165-5489T>C | |
| XM_011539981.1:c.209T>C | XP_011538283.1:p.Leu70Pro | |
| XM_011539982.1:c.113T>C | XP_011538284.1:p.Leu38Pro | |
| XR_945789.1:n.921T>C | ||
| XR_945790.1:n.921T>C | ||
| XR_945791.1:n.921T>C | ||
| NM_000314.7:c.209T>C | NP_000305.3:p.Leu70Pro | |
| NM_001304717.5:c.728T>C | NP_001291646.4:p.Leu243Pro | |
| NM_001304718.2:c.-541-5489T>C | NP_001291647.1:n.-541-5489T>C | |
| NM_000314.8:c.209T>C MANE Select | NP_000305.3:p.Leu70Pro |