Linked Data
dbSNP Id:
rs765939201
ExAC:
17:39740138 A / G
gnomAD v2:
17-39740138-A-G
gnomAD v4:
17-41583886-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583886A>G , CM000679.2:g.41583886A>G | GRCh38 |
| NC_000017.10:g.39740138A>G , CM000679.1:g.39740138A>G | GRCh37 |
| NC_000017.9:g.36993664A>G | NCBI36 |
| NG_008624.1:g.8010T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.801T>C MANE Select | ENSP00000167586.6:p.Asp267= | |
| ENST00000167586.6:c.801T>C | ENSP00000167586.6:p.Asp267= | |
| ENST00000476662.1:n.251T>C | ||
| NM_000526.4:c.801T>C | NP_000517.2:p.Asp267= | |
| NM_000526.5:c.801T>C MANE Select | NP_000517.3:p.Asp267= |