Linked Data
ClinVar Variation Id:
1577526
ClinVar RCV Id:
RCV002088035
dbSNP Id:
rs755886692
ExAC:
22:29876404 A / G
gnomAD v2:
22-29876404-A-G
gnomAD v3:
22-29480415-A-G
gnomAD v4:
22-29480415-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480415A>G , CM000684.2:g.29480415A>G | GRCh38 |
| NC_000022.10:g.29876404A>G , CM000684.1:g.29876404A>G | GRCh37 |
| NC_000022.9:g.28206404A>G | NCBI36 |
| NG_008404.1:g.5224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.153A>G MANE Select | ENSP00000311997.6:p.Thr51= | |
| ENST00000310624.6:c.153A>G | ENSP00000311997.6:p.Thr51= | |
| NM_021076.3:c.153A>G | NP_066554.2:p.Thr51= | |
| XM_011530200.1:c.153A>G | XP_011528502.1:p.Thr51= | |
| XM_011530200.2:c.153A>G | XP_011528502.1:p.Thr51= | |
| NM_021076.4:c.153A>G MANE Select | NP_066554.2:p.Thr51= |