Linked Data
dbSNP Id:
rs1418476631
gnomAD v2:
11-17656711-C-T
gnomAD v3:
11-17635164-C-T
gnomAD v4:
11-17635164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17635164C>T , CM000673.2:g.17635164C>T | GRCh38 |
| NC_000011.9:g.17656711C>T , CM000673.1:g.17656711C>T | GRCh37 |
| NC_000011.8:g.17613287C>T | NCBI36 |
| NG_033191.1:g.92792C>T | |
| NG_033191.2:g.92792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7706C>T | ENSP00000382323.2:p.Ser2569Phe | |
| ENST00000399397.6:c.7670C>T MANE Select | ENSP00000382329.2:p.Ser2557Phe | |
| ENST00000342528.2:c.4322-446C>T | ENSP00000341666.2:n.4322-446C>T | |
| ENST00000399391.6:c.7706C>T | ENSP00000382323.2:p.Ser2569Phe | |
| ENST00000399397.5:c.7670C>T | ENSP00000382329.2:p.Ser2557Phe | |
| NM_001277269.1:c.7706C>T | NP_001264198.1:p.Ser2569Phe | |
| NM_001292063.1:c.7670C>T | NP_001278992.1:p.Ser2557Phe | |
| NM_001277269.2:c.7706C>T | NP_001264198.1:p.Ser2569Phe | |
| NM_001292063.2:c.7670C>T MANE Select | NP_001278992.1:p.Ser2557Phe |