Linked Data
ClinVar Variation Id:
1030263
dbSNP Id:
rs748992677
ExAC:
2:113513563 T / A
gnomAD v2:
2-113513563-T-A
gnomAD v3:
2-112755986-T-A
gnomAD v4:
2-112755986-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112755986T>A , CM000664.2:g.112755986T>A | GRCh38 |
| NC_000002.11:g.113513563T>A , CM000664.1:g.113513563T>A | GRCh37 |
| NC_000002.10:g.113230034T>A | NCBI36 |
| NG_041820.1:g.13692A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.1385A>T MANE Select | ENSP00000305204.6:p.Glu462Val | |
| ENST00000302450.10:c.1385A>T | ENSP00000305204.6:p.Glu462Val | |
| ENST00000435431.5:c.*60A>T | ENSP00000414834.1:n.*60A>T | |
| ENST00000474331.1:n.89A>T | ||
| NM_001304361.1:c.890A>T | NP_001291290.1:p.Glu297Val | |
| NM_152515.4:c.1385A>T | NP_689728.3:p.Glu462Val | |
| NR_130712.1:n.706A>T | ||
| XM_011510666.1:c.890A>T | XP_011508968.1:p.Glu297Val | |
| XM_011510666.2:c.890A>T | XP_011508968.1:p.Glu297Val | |
| NM_152515.5:c.1385A>T MANE Select | NP_689728.3:p.Glu462Val | |
| NM_001304361.2:c.890A>T | NP_001291290.1:p.Glu297Val | |
| NR_130712.2:n.638A>T |