Linked Data
dbSNP Id:
rs572625293
gnomAD v4:
1-156861072-G-T
MyVariant Identifiers:
chr1:g.156830864G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156861072G>T , CM000663.2:g.156861072G>T | GRCh38 |
| NC_000001.10:g.156830864G>T , CM000663.1:g.156830864G>T | GRCh37 |
| NC_000001.9:g.155097488G>T | NCBI36 |
| NG_007493.1:g.50323G>T , LRG_261:g.50323G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.51-3282G>T | ENSP00000502725.1:n.51-3282G>T | |
| ENST00000392302.7:c.51-3282G>T | ENSP00000376120.3:n.51-3282G>T | |
| ENST00000497019.7:c.51-3282G>T | ENSP00000436804.2:n.51-3282G>T | |
| ENST00000524377.7:c.138G>T MANE Select | ENSP00000431418.1:p.Ser46= | |
| ENST00000674537.1:c.51-3282G>T | ENSP00000502725.1:n.51-3282G>T | |
| ENST00000675461.1:c.138G>T | ENSP00000501668.1:p.Ser46= | |
| ENST00000358660.3:c.138G>T | ENSP00000351486.3:p.Ser46= | |
| ENST00000368196.7:c.138G>T | ENSP00000357179.3:p.Ser46= | |
| ENST00000392302.6:c.123-3282G>T | ENSP00000376120.2:n.123-3282G>T | |
| ENST00000489021.6:n.313-12561G>T | ||
| ENST00000497019.6:c.123-3282G>T | ENSP00000436804.1:n.123-3282G>T | |
| ENST00000524377.5:c.138G>T | ENSP00000431418.1:p.Ser46= | |
| ENST00000530298.5:n.271-3282G>T | ||
| ENST00000533630.1:n.160G>T | ||
| NM_001007792.1:c.123-3282G>T , LRG_261t1:c.123-3282G>T | NP_001007793.1:n.123-3282G>T | |
| NM_001012331.1:c.138G>T , LRG_261t2:c.138G>T | NP_001012331.1:p.Ser46= | |
| NM_002529.3:c.138G>T , LRG_261t3:c.138G>T | NP_002520.2:p.Ser46= | |
| NM_001012331.2:c.138G>T | NP_001012331.1:p.Ser46= | |
| NM_002529.4:c.138G>T MANE Select | NP_002520.2:p.Ser46= |