Linked Data
ClinVar Variation Id:
92813
ClinVar RCV Id:
RCV000078606
RCV000123045
RCV000162387
RCV000512721
RCV001357961
RCV001798276
RCV003315602
dbSNP Id:
rs150651961
ExAC:
10:89653834 C / T
gnomAD v2:
10-89653834-C-T
gnomAD v3:
10-87894077-C-T
gnomAD v4:
10-87894077-C-T
COSMIC:
COSM5168
ERepo:
CA000318/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87894077C>T , CM000672.2:g.87894077C>T | GRCh38 |
| NC_000010.10:g.89653834C>T , CM000672.1:g.89653834C>T | GRCh37 |
| NC_000010.9:g.89643814C>T | NCBI36 |
| NG_007466.2:g.35639C>T , LRG_311:g.35639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.132C>T | ENSP00000514759.2:p.Gly44= | |
| ENST00000710265.1:c.132C>T | ENSP00000518161.1:p.Gly44= | |
| ENST00000472832.3:c.132C>T | ENSP00000483066.2:p.Gly44= | |
| ENST00000688158.2:n.899+13639C>T | ||
| ENST00000688922.2:c.132C>T | ENSP00000508742.2:p.Gly44= | |
| ENST00000700021.1:c.132C>T | ENSP00000514757.1:p.Gly44= | |
| ENST00000700022.1:c.132C>T | ENSP00000514758.1:p.Gly44= | |
| ENST00000706954.1:c.132C>T | ENSP00000516674.1:p.Gly44= | |
| ENST00000706955.1:c.*167C>T | ENSP00000516675.1:n.*167C>T | |
| ENST00000686459.1:c.132C>T | ENSP00000508909.1:p.Gly44= | |
| ENST00000688158.1:c.*275+13639C>T | ENSP00000509254.1:n.*275+13639C>T | |
| ENST00000688308.1:c.132C>T | ENSP00000508752.1:p.Gly44= | |
| ENST00000688922.1:c.1C>T | ||
| ENST00000693560.1:c.651C>T | ENSP00000509861.1:p.Gly217= | |
| ENST00000371953.8:c.132C>T MANE Select | ENSP00000361021.3:p.Gly44= | |
| ENST00000371953.7:c.132C>T | ENSP00000361021.3:p.Gly44= | |
| ENST00000462694.1:n.134C>T | ||
| ENST00000610634.1:c.30C>T | ENSP00000477517.1:p.Gly10= | |
| NM_000314.5:c.132C>T | NP_000305.3:p.Gly44= | |
| NM_000314.6:c.132C>T | NP_000305.3:p.Gly44= | |
| NM_001304717.2:c.651C>T | NP_001291646.2:p.Gly217= | |
| NM_001304718.1:c.-574C>T | NP_001291647.1:n.-574C>T | |
| XM_006717926.2:c.132C>T | XP_006717989.1:p.Gly44= | |
| XM_011539981.1:c.132C>T | XP_011538283.1:p.Gly44= | |
| XM_011539982.1:c.68+13639C>T | XP_011538284.1:n.68+13639C>T | |
| XR_945789.1:n.844C>T | ||
| XR_945790.1:n.844C>T | ||
| XR_945791.1:n.844C>T | ||
| NM_000314.7:c.132C>T | NP_000305.3:p.Gly44= | |
| NM_001304717.5:c.651C>T | NP_001291646.4:p.Gly217= | |
| NM_001304718.2:c.-574C>T | NP_001291647.1:n.-574C>T | |
| NM_000314.8:c.132C>T MANE Select | NP_000305.3:p.Gly44= |