Linked Data
dbSNP Id:
rs1569129590
gnomAD v4:
22-19176883-G-C
MyVariant Identifiers:
chr22:g.19164396G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176883G>C , CM000684.2:g.19176883G>C | GRCh38 |
| NC_000022.10:g.19164396G>C , CM000684.1:g.19164396G>C | GRCh37 |
| NC_000022.9:g.17544396G>C | NCBI36 |
| NG_033863.1:g.6981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.594C>G MANE Select | ENSP00000215882.5:p.Arg198= | |
| ENST00000215882.9:c.594C>G | ENSP00000215882.5:p.Arg198= | |
| ENST00000451283.5:c.285C>G | ENSP00000401480.1:p.Arg95= | |
| ENST00000461267.1:n.740C>G | ||
| ENST00000470922.5:n.736C>G | ||
| NM_001256534.1:c.615C>G | NP_001243463.1:p.Arg205= | |
| NM_001287387.1:c.285C>G | NP_001274316.1:p.Arg95= | |
| NM_005984.4:c.594C>G | NP_005975.1:p.Arg198= | |
| NR_046298.2:n.645C>G | ||
| NM_005984.5:c.594C>G MANE Select | NP_005975.1:p.Arg198= | |
| NM_001256534.2:c.615C>G | NP_001243463.1:p.Arg205= | |
| NM_001287387.2:c.285C>G | NP_001274316.1:p.Arg95= | |
| NR_046298.3:n.518C>G |