Linked Data
dbSNP Id:
rs534435462
ExAC:
17:39740509 C / T
gnomAD v2:
17-39740509-C-T
gnomAD v3:
17-41584257-C-T
gnomAD v4:
17-41584257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584257C>T , CM000679.2:g.41584257C>T | GRCh38 |
| NC_000017.10:g.39740509C>T , CM000679.1:g.39740509C>T | GRCh37 |
| NC_000017.9:g.36994035C>T | NCBI36 |
| NG_008624.1:g.7639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.765G>A MANE Select | ENSP00000167586.6:p.Glu255= | |
| ENST00000167586.6:c.765G>A | ENSP00000167586.6:p.Glu255= | |
| ENST00000476662.1:n.215G>A | ||
| NM_000526.4:c.765G>A | NP_000517.2:p.Glu255= | |
| NM_000526.5:c.765G>A MANE Select | NP_000517.3:p.Glu255= |