Linked Data
dbSNP Id:
rs1907527347
gnomAD v4:
17-41586433-A-T
MyVariant Identifiers:
chr17:g.39742685A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586433A>T , CM000679.2:g.41586433A>T | GRCh38 |
| NC_000017.10:g.39742685A>T , CM000679.1:g.39742685A>T | GRCh37 |
| NC_000017.9:g.36996211A>T | NCBI36 |
| NG_008624.1:g.5463T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.402T>A MANE Select | ENSP00000167586.6:p.Arg134= | |
| ENST00000167586.6:c.402T>A | ENSP00000167586.6:p.Arg134= | |
| NM_000526.4:c.402T>A | NP_000517.2:p.Arg134= | |
| NM_000526.5:c.402T>A MANE Select | NP_000517.3:p.Arg134= |