Linked Data
ClinVar Variation Id:
142269
dbSNP Id:
rs587782350
gnomAD v4:
10-87957955-C-T
COSMIC:
COSM5111
ERepo:
CA000559/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957955C>T , CM000672.2:g.87957955C>T | GRCh38 |
| NC_000010.10:g.89717712C>T , CM000672.1:g.89717712C>T | GRCh37 |
| NC_000010.9:g.89707692C>T | NCBI36 |
| NG_007466.2:g.99517C>T , LRG_311:g.99517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.737C>T | ENSP00000514759.2:p.Pro246Leu | |
| ENST00000710265.1:c.737C>T | ENSP00000518161.1:p.Pro246Leu | |
| ENST00000472832.3:c.737C>T | ENSP00000483066.2:p.Pro246Leu | |
| ENST00000688158.2:n.1472C>T | ||
| ENST00000688922.2:c.*567C>T | ENSP00000508742.2:n.*567C>T | |
| ENST00000700021.1:c.692C>T | ENSP00000514757.1:p.Pro231Leu | |
| ENST00000700022.1:c.*76C>T | ENSP00000514758.1:n.*76C>T | |
| ENST00000700023.1:n.1895C>T | ||
| ENST00000700024.1:n.2129C>T | ||
| ENST00000700025.1:n.1506C>T | ||
| ENST00000700026.1:n.374C>T | ||
| ENST00000700029.1:c.571C>T | ||
| ENST00000706954.1:c.737C>T | ENSP00000516674.1:p.Pro246Leu | |
| ENST00000706955.1:c.*772C>T | ENSP00000516675.1:n.*772C>T | |
| ENST00000686459.1:c.*323C>T | ENSP00000508909.1:n.*323C>T | |
| ENST00000688158.1:c.*848C>T | ENSP00000509254.1:n.*848C>T | |
| ENST00000688308.1:c.737C>T | ENSP00000508752.1:p.Pro246Leu | |
| ENST00000688922.1:c.658C>T | ||
| ENST00000693560.1:c.1256C>T | ENSP00000509861.1:p.Pro419Leu | |
| ENST00000371953.8:c.737C>T MANE Select | ENSP00000361021.3:p.Pro246Leu | |
| ENST00000371953.7:c.737C>T | ENSP00000361021.3:p.Pro246Leu | |
| ENST00000472832.2:c.164C>T | ENSP00000483066.1:p.Pro55Leu | |
| NM_000314.5:c.737C>T | NP_000305.3:p.Pro246Leu | |
| NM_000314.6:c.737C>T | NP_000305.3:p.Pro246Leu | |
| NM_001304717.2:c.1256C>T | NP_001291646.2:p.Pro419Leu | |
| NM_001304718.1:c.146C>T | NP_001291647.1:p.Pro49Leu | |
| XM_006717926.2:c.692C>T | XP_006717989.1:p.Pro231Leu | |
| XM_011539981.1:c.737C>T | XP_011538283.1:p.Pro246Leu | |
| XM_011539982.1:c.641C>T | XP_011538284.1:p.Pro214Leu | |
| XR_945791.1:n.1307C>T | ||
| NM_000314.7:c.737C>T | NP_000305.3:p.Pro246Leu | |
| NM_001304717.5:c.1256C>T | NP_001291646.4:p.Pro419Leu | |
| NM_001304718.2:c.146C>T | NP_001291647.1:p.Pro49Leu | |
| NM_000314.8:c.737C>T MANE Select | NP_000305.3:p.Pro246Leu |