Linked Data
dbSNP Id:
rs1201127289
gnomAD v3:
22-19176830-T-C
gnomAD v4:
22-19176830-T-C
MyVariant Identifiers:
chr22:g.19176830T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176830T>C , CM000684.2:g.19176830T>C | GRCh38 |
| NC_000022.10:g.19164343T>C , CM000684.1:g.19164343T>C | GRCh37 |
| NC_000022.9:g.17544343T>C | NCBI36 |
| NG_033863.1:g.7034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.631+16A>G MANE Select | ENSP00000215882.5:n.631+16A>G | |
| ENST00000215882.9:c.631+16A>G | ENSP00000215882.5:n.631+16A>G | |
| ENST00000451283.5:c.322+16A>G | ENSP00000401480.1:n.322+16A>G | |
| ENST00000461267.1:n.777+16A>G | ||
| ENST00000470922.5:n.773+16A>G | ||
| NM_001256534.1:c.652+16A>G | NP_001243463.1:n.652+16A>G | |
| NM_001287387.1:c.322+16A>G | NP_001274316.1:n.322+16A>G | |
| NM_005984.4:c.631+16A>G | NP_005975.1:n.631+16A>G | |
| NR_046298.2:n.682+16A>G | ||
| NM_005984.5:c.631+16A>G MANE Select | NP_005975.1:n.631+16A>G | |
| NM_001256534.2:c.652+16A>G | NP_001243463.1:n.652+16A>G | |
| NM_001287387.2:c.322+16A>G | NP_001274316.1:n.322+16A>G | |
| NR_046298.3:n.555+16A>G |