Linked Data
dbSNP Id:
rs560597490
ExAC:
15:43545028 T / C
gnomAD v2:
15-43545028-T-C
gnomAD v3:
15-43252830-T-C
gnomAD v4:
15-43252830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43252830T>C , CM000677.2:g.43252830T>C | GRCh38 |
| NC_000015.9:g.43545028T>C , CM000677.1:g.43545028T>C | GRCh37 |
| NC_000015.8:g.41332320T>C | NCBI36 |
| NG_016124.1:g.19028A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.791A>G MANE Select | ENSP00000220420.5:p.Gln264Arg | |
| ENST00000635871.1:n.260A>G | ||
| ENST00000220420.9:c.791A>G | ENSP00000220420.5:p.Gln264Arg | |
| ENST00000349114.8:c.545A>G | ENSP00000220419.8:p.Gln182Arg | |
| ENST00000610827.4:c.788A>G | ENSP00000479732.1:p.Gln263Arg | |
| ENST00000611276.4:c.542A>G | ENSP00000482542.1:p.Gln181Arg | |
| ENST00000622115.1:c.794A>G | ENSP00000479638.1:p.Gln265Arg | |
| NM_004245.3:c.545A>G | NP_004236.1:p.Gln182Arg | |
| NM_201631.3:c.791A>G | NP_963925.2:p.Gln264Arg | |
| XM_011522229.1:c.791A>G | XP_011520531.1:p.Gln264Arg | |
| XR_931948.1:n.965A>G | ||
| NM_004245.4:c.545A>G | NP_004236.1:p.Gln182Arg | |
| NM_201631.4:c.791A>G MANE Select | NP_963925.2:p.Gln264Arg |