Linked Data
dbSNP Id:
rs1555922509
gnomAD v2:
22-19164420-C-T
gnomAD v4:
22-19176907-C-T
MyVariant Identifiers:
chr22:g.19164420C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176907C>T , CM000684.2:g.19176907C>T | GRCh38 |
| NC_000022.10:g.19164420C>T , CM000684.1:g.19164420C>T | GRCh37 |
| NC_000022.9:g.17544420C>T | NCBI36 |
| NG_033863.1:g.6957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.570G>A MANE Select | ENSP00000215882.5:p.Lys190= | |
| ENST00000215882.9:c.570G>A | ENSP00000215882.5:p.Lys190= | |
| ENST00000451283.5:c.261G>A | ENSP00000401480.1:p.Lys87= | |
| ENST00000461267.1:n.716G>A | ||
| ENST00000470922.5:n.712G>A | ||
| NM_001256534.1:c.591G>A | NP_001243463.1:p.Lys197= | |
| NM_001287387.1:c.261G>A | NP_001274316.1:p.Lys87= | |
| NM_005984.4:c.570G>A | NP_005975.1:p.Lys190= | |
| NR_046298.2:n.621G>A | ||
| NM_005984.5:c.570G>A MANE Select | NP_005975.1:p.Lys190= | |
| NM_001256534.2:c.591G>A | NP_001243463.1:p.Lys197= | |
| NM_001287387.2:c.261G>A | NP_001274316.1:p.Lys87= | |
| NR_046298.3:n.494G>A |