Linked Data
ClinVar Variation Id:
753375
ClinVar RCV Id:
RCV000930605
dbSNP Id:
rs963153105
gnomAD v2:
1-197112455-T-C
gnomAD v3:
1-197143325-T-C
gnomAD v4:
1-197143325-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197143325T>C , CM000663.2:g.197143325T>C | GRCh38 |
| NC_000001.10:g.197112455T>C , CM000663.1:g.197112455T>C | GRCh37 |
| NC_000001.9:g.195379078T>C | NCBI36 |
| NG_015867.1:g.8370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.927A>G MANE Select | ENSP00000356379.4:p.Thr309= | |
| ENST00000679766.1:n.1144A>G | ||
| ENST00000680265.1:c.927A>G | ENSP00000505384.1:p.Thr309= | |
| ENST00000680710.1:c.927A>G | ENSP00000506676.1:p.Thr309= | |
| ENST00000681879.1:c.927A>G | ENSP00000505363.1:p.Thr309= | |
| ENST00000294732.11:c.927A>G | ENSP00000294732.7:p.Thr309= | |
| ENST00000367409.8:c.927A>G | ENSP00000356379.4:p.Thr309= | |
| ENST00000612785.1:c.561+366A>G | ENSP00000479244.1:n.561+366A>G | |
| NM_001206846.1:c.927A>G | NP_001193775.1:p.Thr309= | |
| NM_018136.4:c.927A>G | NP_060606.3:p.Thr309= | |
| NM_018136.5:c.927A>G MANE Select | NP_060606.3:p.Thr309= | |
| NM_001206846.2:c.927A>G | NP_001193775.1:p.Thr309= |