Linked Data
ClinVar Variation Id:
12308
dbSNP Id:
rs6339
ExAC:
1:156848946 G / T
gnomAD v2:
1-156848946-G-T
gnomAD v3:
1-156879154-G-T
gnomAD v4:
1-156879154-G-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879154G>T , CM000663.2:g.156879154G>T | GRCh38 |
| NC_000001.10:g.156848946G>T , CM000663.1:g.156848946G>T | GRCh37 |
| NC_000001.9:g.155115570G>T | NCBI36 |
| NG_007493.1:g.68405G>T , LRG_261:g.68405G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1658G>T | ENSP00000502725.1:p.Gly553Val | |
| ENST00000392302.7:c.1658G>T | ENSP00000376120.3:p.Gly553Val | |
| ENST00000497019.7:c.*430G>T | ENSP00000436804.2:n.*430G>T | |
| ENST00000524377.7:c.1838G>T MANE Select | ENSP00000431418.1:p.Gly613Val | |
| ENST00000674537.1:c.1658G>T | ENSP00000502725.1:p.Gly553Val | |
| ENST00000358660.3:c.1829G>T | ENSP00000351486.3:p.Gly610Val | |
| ENST00000368196.7:c.1820G>T | ENSP00000357179.3:p.Gly607Val | |
| ENST00000392302.6:c.1730G>T | ENSP00000376120.2:p.Gly577Val | |
| ENST00000497019.6:c.*430G>T | ENSP00000436804.1:n.*430G>T | |
| ENST00000524377.5:c.1838G>T | ENSP00000431418.1:p.Gly613Val | |
| ENST00000530298.5:n.2291G>T | ||
| NM_001007792.1:c.1730G>T , LRG_261t1:c.1730G>T | NP_001007793.1:p.Gly577Val | |
| NM_001012331.1:c.1820G>T , LRG_261t2:c.1820G>T | NP_001012331.1:p.Gly607Val | |
| NM_002529.3:c.1838G>T , LRG_261t3:c.1838G>T | NP_002520.2:p.Gly613Val | |
| NM_001012331.2:c.1820G>T | NP_001012331.1:p.Gly607Val | |
| NM_002529.4:c.1838G>T MANE Select | NP_002520.2:p.Gly613Val |