Linked Data
dbSNP Id:
rs1196722063
gnomAD v4:
22-19176497-A-G
MyVariant Identifiers:
chr22:g.19176497A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176497A>G , CM000684.2:g.19176497A>G | GRCh38 |
| NC_000022.10:g.19164010A>G , CM000684.1:g.19164010A>G | GRCh37 |
| NC_000022.9:g.17544010A>G | NCBI36 |
| NG_033863.1:g.7367T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.748-3T>C MANE Select | ENSP00000215882.5:n.748-3T>C | |
| ENST00000215882.9:c.748-3T>C | ENSP00000215882.5:n.748-3T>C | |
| ENST00000451283.5:c.439-3T>C | ENSP00000401480.1:n.439-3T>C | |
| ENST00000470922.5:n.890-3T>C | ||
| NM_001256534.1:c.769-3T>C | NP_001243463.1:n.769-3T>C | |
| NM_001287387.1:c.439-3T>C | NP_001274316.1:n.439-3T>C | |
| NM_005984.4:c.748-3T>C | NP_005975.1:n.748-3T>C | |
| NR_046298.2:n.799-3T>C | ||
| NM_005984.5:c.748-3T>C MANE Select | NP_005975.1:n.748-3T>C | |
| NM_001256534.2:c.769-3T>C | NP_001243463.1:n.769-3T>C | |
| NM_001287387.2:c.439-3T>C | NP_001274316.1:n.439-3T>C | |
| NR_046298.3:n.672-3T>C |