Linked Data
dbSNP Id:
rs1216869791
gnomAD v2:
3-180377466-T-C
gnomAD v3:
3-180659678-T-C
gnomAD v4:
3-180659678-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659678T>C , CM000665.2:g.180659678T>C | GRCh38 |
| NC_000003.11:g.180377466T>C , CM000665.1:g.180377466T>C | GRCh37 |
| NC_000003.10:g.181860160T>C | NCBI36 |
| NG_029581.1:g.24818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.608A>G MANE Select | ENSP00000417960.2:p.Gln203Arg | |
| ENST00000650641.1:n.687A>G | ||
| ENST00000650889.1:n.780A>G | ||
| ENST00000651046.1:c.608A>G | ENSP00000499175.1:p.Gln203Arg | |
| ENST00000651818.1:n.750A>G | ||
| ENST00000652024.1:n.699A>G | ||
| ENST00000652408.1:n.745A>G | ||
| ENST00000442201.6:c.608A>G | ENSP00000405708.2:p.Gln203Arg | |
| ENST00000476379.5:c.608A>G | ENSP00000417960.1:p.Gln203Arg | |
| NM_181426.1:c.608A>G | NP_852091.1:p.Gln203Arg | |
| NM_181426.2:c.608A>G MANE Select | NP_852091.1:p.Gln203Arg |