Linked Data
ClinVar Variation Id:
975504
dbSNP Id:
rs749495615
ExAC:
20:31015992 C / T
gnomAD v2:
20-31015992-C-T
gnomAD v3:
20-32428189-C-T
gnomAD v4:
20-32428189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32428189C>T , CM000682.2:g.32428189C>T | GRCh38 |
| NC_000020.10:g.31015992C>T , CM000682.1:g.31015992C>T | GRCh37 |
| NC_000020.9:g.30479653C>T | NCBI36 |
| NG_027868.1:g.74846C>T , LRG_630:g.74846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.314C>T MANE Select | ENSP00000364839.4:p.Thr105Met | |
| ENST00000470145.3:n.257C>T | ||
| ENST00000643168.1:c.230C>T | ENSP00000495003.1:p.Thr77Met | |
| ENST00000644060.1:n.1118C>T | ||
| ENST00000644587.1:c.*153C>T | ENSP00000494813.1:n.*153C>T | |
| ENST00000644615.1:n.18C>T | ||
| ENST00000645514.1:n.62C>T | ||
| ENST00000645688.1:c.230C>T | ENSP00000495488.1:p.Thr77Met | |
| ENST00000646985.1:c.284C>T | ENSP00000495053.1:p.Thr95Met | |
| ENST00000651418.1:c.314C>T | ENSP00000499150.1:p.Thr105Met | |
| ENST00000306058.9:c.299C>T | ENSP00000305119.5:p.Thr100Met | |
| ENST00000375687.8:c.314C>T | ENSP00000364839.4:p.Thr105Met | |
| ENST00000470145.2:n.257C>T | ||
| ENST00000613218.4:c.314C>T | ENSP00000480487.1:p.Thr105Met | |
| ENST00000620121.4:c.314C>T | ENSP00000481978.1:p.Thr105Met | |
| NM_015338.5:c.314C>T , LRG_630t1:c.314C>T | NP_056153.2:p.Thr105Met | |
| XM_006723727.2:c.311C>T | XP_006723790.1:p.Thr104Met | |
| XM_006723728.2:c.284C>T | XP_006723791.1:p.Thr95Met | |
| XM_006723730.2:c.230C>T | XP_006723793.1:p.Thr77Met | |
| XM_006723732.2:c.284C>T | XP_006723795.1:p.Thr95Met | |
| XM_011528647.1:c.578C>T | XP_011526949.1:p.Thr193Met | |
| XM_011528648.1:c.575C>T | XP_011526950.1:p.Thr192Met | |
| XM_011528649.1:c.494C>T | XP_011526951.1:p.Thr165Met | |
| XM_011528650.1:c.578C>T | XP_011526952.1:p.Thr193Met | |
| XM_011528651.1:c.293C>T | XP_011526953.1:p.Thr98Met | |
| XM_011528652.1:c.230C>T | XP_011526954.1:p.Thr77Met | |
| NM_001363734.1:c.284C>T | NP_001350663.1:p.Thr95Met | |
| XM_006723727.3:c.311C>T | XP_006723790.1:p.Thr104Met | |
| XM_006723728.3:c.284C>T | XP_006723791.1:p.Thr95Met | |
| XM_006723730.4:c.230C>T | XP_006723793.1:p.Thr77Met | |
| XM_011528648.3:c.575C>T | XP_011526950.1:p.Thr192Met | |
| XM_011528652.2:c.230C>T | XP_011526954.1:p.Thr77Met | |
| XM_017027704.1:c.230C>T | XP_016883193.1:p.Thr77Met | |
| XM_017027705.1:c.230C>T | XP_016883194.1:p.Thr77Met | |
| XM_017027706.1:c.314C>T | XP_016883195.1:p.Thr105Met | |
| NM_015338.6:c.314C>T MANE Select | NP_056153.2:p.Thr105Met |