Linked Data
ClinVar Variation Id:
189411
dbSNP Id:
rs786204864
COSMIC:
COSM5149
ERepo:
CA000494/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952136C>T , CM000672.2:g.87952136C>T | GRCh38 |
| NC_000010.10:g.89711893C>T , CM000672.1:g.89711893C>T | GRCh37 |
| NC_000010.9:g.89701873C>T | NCBI36 |
| NG_007466.2:g.93698C>T , LRG_311:g.93698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.511C>T | ENSP00000514759.2:p.Gln171Ter | |
| ENST00000710265.1:c.511C>T | ENSP00000518161.1:p.Gln171Ter | |
| ENST00000472832.3:c.511C>T | ENSP00000483066.2:p.Gln171Ter | |
| ENST00000688158.2:n.1246C>T | ||
| ENST00000688922.2:c.*341C>T | ENSP00000508742.2:n.*341C>T | |
| ENST00000700021.1:c.466C>T | ENSP00000514757.1:p.Gln156Ter | |
| ENST00000700022.1:c.493-5717C>T | ENSP00000514758.1:n.493-5717C>T | |
| ENST00000700023.1:n.1669C>T | ||
| ENST00000700024.1:n.1903C>T | ||
| ENST00000700025.1:n.1280C>T | ||
| ENST00000700029.1:c.345C>T | ||
| ENST00000706954.1:c.511C>T | ENSP00000516674.1:p.Gln171Ter | |
| ENST00000706955.1:c.*546C>T | ENSP00000516675.1:n.*546C>T | |
| ENST00000686459.1:c.*97C>T | ENSP00000508909.1:n.*97C>T | |
| ENST00000688158.1:c.*622C>T | ENSP00000509254.1:n.*622C>T | |
| ENST00000688308.1:c.511C>T | ENSP00000508752.1:p.Gln171Ter | |
| ENST00000688922.1:c.432C>T | ||
| ENST00000693560.1:c.1030C>T | ENSP00000509861.1:p.Gln344Ter | |
| ENST00000371953.8:c.511C>T MANE Select | ENSP00000361021.3:p.Gln171Ter | |
| ENST00000371953.7:c.511C>T | ENSP00000361021.3:p.Gln171Ter | |
| NM_000314.5:c.511C>T | NP_000305.3:p.Gln171Ter | |
| NM_000314.6:c.511C>T | NP_000305.3:p.Gln171Ter | |
| NM_001304717.2:c.1030C>T | NP_001291646.2:p.Gln344Ter | |
| NM_001304718.1:c.-81C>T | NP_001291647.1:n.-81C>T | |
| XM_006717926.2:c.466C>T | XP_006717989.1:p.Gln156Ter | |
| XM_011539981.1:c.511C>T | XP_011538283.1:p.Gln171Ter | |
| XM_011539982.1:c.415C>T | XP_011538284.1:p.Gln139Ter | |
| XR_945789.1:n.1382C>T | ||
| XR_945790.1:n.1499C>T | ||
| XR_945791.1:n.1205-5717C>T | ||
| NM_000314.7:c.511C>T | NP_000305.3:p.Gln171Ter | |
| NM_001304717.5:c.1030C>T | NP_001291646.4:p.Gln344Ter | |
| NM_001304718.2:c.-81C>T | NP_001291647.1:n.-81C>T | |
| NM_000314.8:c.511C>T MANE Select | NP_000305.3:p.Gln171Ter |