Linked Data
dbSNP Id:
rs575420790
ExAC:
22:19163726 G / T
gnomAD v2:
22-19163726-G-T
gnomAD v3:
22-19176213-G-T
gnomAD v4:
22-19176213-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176213G>T , CM000684.2:g.19176213G>T | GRCh38 |
| NC_000022.10:g.19163726G>T , CM000684.1:g.19163726G>T | GRCh37 |
| NC_000022.9:g.17543726G>T | NCBI36 |
| NG_033863.1:g.7651C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.853C>A MANE Select | ENSP00000215882.5:p.Arg285= | |
| ENST00000215882.9:c.853C>A | ENSP00000215882.5:p.Arg285= | |
| ENST00000451283.5:c.544C>A | ENSP00000401480.1:p.Arg182= | |
| ENST00000470922.5:n.995C>A | ||
| NM_001256534.1:c.874C>A | NP_001243463.1:p.Arg292= | |
| NM_001287387.1:c.544C>A | NP_001274316.1:p.Arg182= | |
| NM_005984.4:c.853C>A | NP_005975.1:p.Arg285= | |
| NR_046298.2:n.904C>A | ||
| NM_005984.5:c.853C>A MANE Select | NP_005975.1:p.Arg285= | |
| NM_001256534.2:c.874C>A | NP_001243463.1:p.Arg292= | |
| NM_001287387.2:c.544C>A | NP_001274316.1:p.Arg182= | |
| NR_046298.3:n.777C>A |