Linked Data
ClinVar Variation Id:
486716
dbSNP Id:
rs1270568049
gnomAD v2:
3-10191615-A-G
gnomAD v3:
3-10149931-A-G
gnomAD v4:
3-10149931-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149931A>G , CM000665.2:g.10149931A>G | GRCh38 |
| NC_000003.11:g.10191615A>G , CM000665.1:g.10191615A>G | GRCh37 |
| NC_000003.10:g.10166615A>G | NCBI36 |
| NG_008212.3:g.13297A>G , LRG_322:g.13297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*285A>G | ENSP00000512434.1:n.*285A>G | |
| ENST00000696143.1:c.744A>G | ENSP00000512435.1:n.744A>G | |
| ENST00000696153.1:c.719A>G | ENSP00000512444.1:p.Gln240Arg | |
| ENST00000256474.3:c.608A>G MANE Select | ENSP00000256474.3:p.Gln203Arg | |
| ENST00000256474.2:c.608A>G | ENSP00000256474.2:p.Gln203Arg | |
| ENST00000345392.2:c.485A>G | ENSP00000344757.2:p.Gln162Arg | |
| ENST00000477538.1:n.744A>G | ||
| NM_000551.3:c.608A>G , LRG_322t1:c.608A>G | NP_000542.1:p.Gln203Arg | |
| NM_198156.2:c.485A>G | NP_937799.1:p.Gln162Arg | |
| NM_001354723.1:c.*162A>G | NP_001341652.1:n.*162A>G | |
| NM_000551.4:c.608A>G MANE Select | NP_000542.1:p.Gln203Arg | |
| NM_001354723.2:c.*162A>G | NP_001341652.1:n.*162A>G | |
| NM_198156.3:c.485A>G | NP_937799.1:p.Gln162Arg |