Linked Data
ClinVar Variation Id:
736412
ClinVar RCV Id:
RCV000912058
dbSNP Id:
rs373010734
ExAC:
17:39742581 A / G
gnomAD v2:
17-39742581-A-G
gnomAD v3:
17-41586329-A-G
gnomAD v4:
17-41586329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586329A>G , CM000679.2:g.41586329A>G | GRCh38 |
| NC_000017.10:g.39742581A>G , CM000679.1:g.39742581A>G | GRCh37 |
| NC_000017.9:g.36996107A>G | NCBI36 |
| NG_008624.1:g.5567T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.506T>C MANE Select | ENSP00000167586.6:p.Ile169Thr | |
| ENST00000167586.6:c.506T>C | ENSP00000167586.6:p.Ile169Thr | |
| NM_000526.4:c.506T>C | NP_000517.2:p.Ile169Thr | |
| NM_000526.5:c.506T>C MANE Select | NP_000517.3:p.Ile169Thr |