Linked Data
ClinVar Variation Id:
515301
dbSNP Id:
rs564775946
ExAC:
1:156845927 C / T
gnomAD v2:
1-156845927-C-T
gnomAD v3:
1-156876135-C-T
gnomAD v4:
1-156876135-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876135C>T , CM000663.2:g.156876135C>T | GRCh38 |
| NC_000001.10:g.156845927C>T , CM000663.1:g.156845927C>T | GRCh37 |
| NC_000001.9:g.155112551C>T | NCBI36 |
| NG_007493.1:g.65386C>T , LRG_261:g.65386C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1377C>T | ENSP00000502725.1:p.Gly459= | |
| ENST00000392302.7:c.1377C>T | ENSP00000376120.3:p.Gly459= | |
| ENST00000497019.7:c.*149C>T | ENSP00000436804.2:n.*149C>T | |
| ENST00000524377.7:c.1557C>T MANE Select | ENSP00000431418.1:p.Gly519= | |
| ENST00000674537.1:c.1377C>T | ENSP00000502725.1:p.Gly459= | |
| ENST00000358660.3:c.1548C>T | ENSP00000351486.3:p.Gly516= | |
| ENST00000368196.7:c.1539C>T | ENSP00000357179.3:p.Gly513= | |
| ENST00000392302.6:c.1449C>T | ENSP00000376120.2:p.Gly483= | |
| ENST00000497019.6:c.*149C>T | ENSP00000436804.1:n.*149C>T | |
| ENST00000524377.5:c.1557C>T | ENSP00000431418.1:p.Gly519= | |
| ENST00000530298.5:n.2010C>T | ||
| ENST00000534682.1:n.780C>T | ||
| NM_001007792.1:c.1449C>T , LRG_261t1:c.1449C>T | NP_001007793.1:p.Gly483= | |
| NM_001012331.1:c.1539C>T , LRG_261t2:c.1539C>T | NP_001012331.1:p.Gly513= | |
| NM_002529.3:c.1557C>T , LRG_261t3:c.1557C>T | NP_002520.2:p.Gly519= | |
| NM_001012331.2:c.1539C>T | NP_001012331.1:p.Gly513= | |
| NM_002529.4:c.1557C>T MANE Select | NP_002520.2:p.Gly519= |