Linked Data
dbSNP Id:
rs558211174
ExAC:
3:93619665 T / C
gnomAD v2:
3-93619665-T-C
gnomAD v4:
3-93900821-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900821T>C , CM000665.2:g.93900821T>C | GRCh38 |
| NC_000003.11:g.93619665T>C , CM000665.1:g.93619665T>C | GRCh37 |
| NC_000003.10:g.95102355T>C | NCBI36 |
| NG_009813.1:g.78270A>G , LRG_572:g.78270A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.710A>G | ENSP00000330021.7:p.Lys237Arg | |
| ENST00000394236.9:c.710A>G MANE Select | ENSP00000377783.3:p.Lys237Arg | |
| ENST00000407433.6:c.665A>G | ENSP00000385794.2:p.Lys222Arg | |
| ENST00000647936.1:c.710A>G | ENSP00000496822.1:p.Lys237Arg | |
| ENST00000648381.1:n.878A>G | ||
| ENST00000648853.1:c.668A>G | ENSP00000497262.1:p.Lys223Arg | |
| ENST00000649103.1:c.809A>G | ENSP00000497962.1:n.809A>G | |
| ENST00000650591.1:c.806A>G | ENSP00000497376.1:p.Lys269Arg | |
| ENST00000394236.7:c.710A>G | ENSP00000377783.3:p.Lys237Arg | |
| ENST00000407433.5:c.317A>G | ENSP00000385794.1:p.Lys106Arg | |
| NM_000313.3:c.710A>G , LRG_572t1:c.710A>G | NP_000304.2:p.Lys237Arg | |
| NM_001314077.1:c.806A>G , LRG_572t2:c.806A>G | NP_001301006.1:p.Lys269Arg | |
| NM_000313.4:c.710A>G MANE Select | NP_000304.2:p.Lys237Arg | |
| NM_001314077.2:c.806A>G | NP_001301006.1:p.Lys269Arg |