Linked Data
dbSNP Id:
rs746433981
ExAC:
1:156845406 C / T
gnomAD v2:
1-156845406-C-T
gnomAD v3:
1-156875614-C-T
gnomAD v4:
1-156875614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875614C>T , CM000663.2:g.156875614C>T | GRCh38 |
| NC_000001.10:g.156845406C>T , CM000663.1:g.156845406C>T | GRCh37 |
| NC_000001.9:g.155112030C>T | NCBI36 |
| NG_007493.1:g.64865C>T , LRG_261:g.64865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1269C>T | ENSP00000502725.1:p.Gly423= | |
| ENST00000392302.7:c.1269C>T | ENSP00000376120.3:p.Gly423= | |
| ENST00000497019.7:c.*41C>T | ENSP00000436804.2:n.*41C>T | |
| ENST00000524377.7:c.1449C>T MANE Select | ENSP00000431418.1:p.Gly483= | |
| ENST00000674537.1:c.1269C>T | ENSP00000502725.1:p.Gly423= | |
| ENST00000358660.3:c.1431C>T | ENSP00000351486.3:p.Gly477= | |
| ENST00000368196.7:c.1431C>T | ENSP00000357179.3:p.Gly477= | |
| ENST00000392302.6:c.1341C>T | ENSP00000376120.2:p.Gly447= | |
| ENST00000497019.6:c.*41C>T | ENSP00000436804.1:n.*41C>T | |
| ENST00000524377.5:c.1449C>T | ENSP00000431418.1:p.Gly483= | |
| ENST00000530298.5:n.1489C>T | ||
| ENST00000534682.1:n.672C>T | ||
| NM_001007792.1:c.1341C>T , LRG_261t1:c.1341C>T | NP_001007793.1:p.Gly447= | |
| NM_001012331.1:c.1431C>T , LRG_261t2:c.1431C>T | NP_001012331.1:p.Gly477= | |
| NM_002529.3:c.1449C>T , LRG_261t3:c.1449C>T | NP_002520.2:p.Gly483= | |
| NM_001012331.2:c.1431C>T | NP_001012331.1:p.Gly477= | |
| NM_002529.4:c.1449C>T MANE Select | NP_002520.2:p.Gly483= |