Linked Data
dbSNP Id:
rs199954392
ExAC:
17:39742733 G / T
gnomAD v3:
17-41586481-G-T
gnomAD v4:
17-41586481-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586481G>T , CM000679.2:g.41586481G>T | GRCh38 |
| NC_000017.10:g.39742733G>T , CM000679.1:g.39742733G>T | GRCh37 |
| NC_000017.9:g.36996259G>T | NCBI36 |
| NG_008624.1:g.5415C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.354C>A MANE Select | ENSP00000167586.6:p.Thr118= | |
| ENST00000167586.6:c.354C>A | ENSP00000167586.6:p.Thr118= | |
| NM_000526.4:c.354C>A | NP_000517.2:p.Thr118= | |
| NM_000526.5:c.354C>A MANE Select | NP_000517.3:p.Thr118= |