Linked Data
ClinVar Variation Id:
209162
ClinVar RCV Id:
RCV000191095
dbSNP Id:
rs540704248
gnomAD v3:
17-50077024-C-G
gnomAD v4:
17-50077024-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50077024C>G , CM000679.2:g.50077024C>G | GRCh38 |
| NC_000017.10:g.48154388C>G , CM000679.1:g.48154388C>G | GRCh37 |
| NC_000017.9:g.45509387C>G | NCBI36 |
| NG_029107.2:g.26049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320031.13:c.1973C>G MANE Select | ENSP00000315190.8:p.Thr658Arg | |
| ENST00000007722.11:c.1973C>G | ENSP00000007722.7:p.Thr658Arg | |
| ENST00000320031.12:c.1973C>G | ENSP00000315190.8:p.Thr658Arg | |
| ENST00000505306.5:n.2637C>G | ||
| ENST00000506827.1:c.108C>G | ||
| NM_002204.2:c.1973C>G | NP_002195.1:p.Thr658Arg | |
| NM_002204.3:c.1973C>G | NP_002195.1:p.Thr658Arg | |
| NM_005501.2:c.1973C>G | NP_005492.1:p.Thr658Arg | |
| XM_005257308.1:c.1568C>G | XP_005257365.1:p.Thr523Arg | |
| XM_005257308.2:c.1568C>G | XP_005257365.1:p.Thr523Arg | |
| XR_001752507.1:n.2348C>G | ||
| NM_002204.4:c.1973C>G MANE Select | NP_002195.1:p.Thr658Arg |