Linked Data
ClinVar Variation Id:
453261
ClinVar RCV Id:
RCV000521194
dbSNP Id:
rs1467438651
gnomAD v4:
8-1858055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1858055C>T , CM000670.2:g.1858055C>T | GRCh38 |
| NC_000008.10:g.1806221C>T , CM000670.1:g.1806221C>T | GRCh37 |
| NC_000008.9:g.1793628C>T | NCBI36 |
| NG_008480.1:g.39073C>T , LRG_234:g.39073C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349830.8:c.133C>T MANE Select | ENSP00000340297.3:p.Gln45Ter | |
| ENST00000635773.1:c.592C>T | ||
| ENST00000635855.1:c.*84C>T | ENSP00000489726.1:n.*84C>T | |
| ENST00000636175.1:c.523C>T | ||
| ENST00000349830.7:c.133C>T | ENSP00000340297.3:p.Gln45Ter | |
| ENST00000398564.5:c.205C>T | ENSP00000381571.1:p.Gln69Ter | |
| ENST00000518288.5:c.205C>T | ENSP00000431012.1:p.Gln69Ter | |
| ENST00000520359.5:c.133C>T | ENSP00000427909.1:p.Gln45Ter | |
| NM_001308152.1:c.133C>T | NP_001295081.1:p.Gln45Ter | |
| NM_001308153.1:c.205C>T | NP_001295082.1:p.Gln69Ter | |
| NM_014629.2:c.133C>T , LRG_234t1:c.133C>T | NP_055444.2:p.Gln45Ter | |
| NM_014629.3:c.133C>T | NP_055444.2:p.Gln45Ter | |
| XM_005266041.2:c.133C>T | XP_005266098.1:p.Gln45Ter | |
| XM_011534766.1:c.133C>T | XP_011533068.1:p.Gln45Ter | |
| XM_011534767.1:c.133C>T | XP_011533069.1:p.Gln45Ter | |
| XM_011534768.1:c.133C>T | XP_011533070.1:p.Gln45Ter | |
| XM_011534769.1:c.88C>T | XP_011533071.1:p.Gln30Ter | |
| XM_011534770.1:c.133C>T | XP_011533072.1:p.Gln45Ter | |
| XM_005266041.4:c.133C>T | XP_005266098.1:p.Gln45Ter | |
| XM_011534767.2:c.133C>T | XP_011533069.1:p.Gln45Ter | |
| XM_011534770.2:c.133C>T | XP_011533072.1:p.Gln45Ter | |
| XM_017014003.1:c.205C>T | XP_016869492.1:p.Gln69Ter | |
| XM_024447334.1:c.133C>T | XP_024303102.1:p.Gln45Ter | |
| XM_024447335.1:c.217C>T | XP_024303103.1:p.Gln73Ter | |
| NM_014629.4:c.133C>T MANE Select | NP_055444.2:p.Gln45Ter | |
| NM_001308152.2:c.133C>T | NP_001295081.1:p.Gln45Ter | |
| NM_001308153.2:c.205C>T | NP_001295082.1:p.Gln69Ter |