Linked Data
dbSNP Id:
rs1065755
ExAC:
1:31188089 C / T
gnomAD v2:
1-31188089-C-T
gnomAD v3:
1-30715242-C-T
gnomAD v4:
1-30715242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.30715242C>T , CM000663.2:g.30715242C>T | GRCh38 |
| NC_000001.10:g.31188089C>T , CM000663.1:g.31188089C>T | GRCh37 |
| NC_000001.9:g.30960676C>T | NCBI36 |
| NG_027941.1:g.13344G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373765.5:c.1275G>A MANE Select | ENSP00000362870.4:p.Glu425= | |
| ENST00000373765.4:c.1275G>A | ENSP00000362870.4:p.Glu425= | |
| ENST00000494561.1:n.295G>A | ||
| NM_002379.3:c.1275G>A MANE Select | NP_002370.1:p.Glu425= |