Linked Data
ClinVar Variation Id:
1516826
ClinVar RCV Id:
RCV002026885
dbSNP Id:
rs764749298
ExAC:
17:7919122 G / A
gnomAD v2:
17-7919122-G-A
gnomAD v4:
17-8015804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015804G>A , CM000679.2:g.8015804G>A | GRCh38 |
| NC_000017.10:g.7919122G>A , CM000679.1:g.7919122G>A | GRCh37 |
| NC_000017.9:g.7859847G>A | NCBI36 |
| NG_009092.1:g.18135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3006G>A MANE Select | ENSP00000254854.4:p.Thr1002= | |
| ENST00000254854.4:c.3006G>A | ENSP00000254854.4:p.Thr1002= | |
| NM_000180.3:c.3006G>A | NP_000171.1:p.Thr1002= | |
| XM_011523816.1:c.3006G>A | XP_011522118.1:p.Thr1002= | |
| NM_000180.4:c.3006G>A MANE Select | NP_000171.1:p.Thr1002= |