Linked Data
dbSNP Id:
rs776451299
ExAC:
11:102398575 T / A
gnomAD v2:
11-102398575-T-A
gnomAD v4:
11-102527844-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527844T>A , CM000673.2:g.102527844T>A | GRCh38 |
| NC_000011.9:g.102398575T>A , CM000673.1:g.102398575T>A | GRCh37 |
| NC_000011.8:g.101903785T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.248A>T MANE Select | ENSP00000260227.4:p.Gln83Leu | |
| ENST00000260227.4:c.248A>T | ENSP00000260227.4:p.Gln83Leu | |
| ENST00000531200.1:n.295A>T | ||
| ENST00000533366.5:n.298A>T | ||
| NM_002423.3:c.248A>T | NP_002414.1:p.Gln83Leu | |
| NM_002423.4:c.248A>T | NP_002414.1:p.Gln83Leu | |
| NM_002423.5:c.248A>T MANE Select | NP_002414.1:p.Gln83Leu |