Linked Data
dbSNP Id:
rs2064506678
gnomAD v4:
22-50220792-T-A
MyVariant Identifiers:
chr22:g.50659221T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220792T>A , CM000684.2:g.50220792T>A | GRCh38 |
| NC_000022.10:g.50659221T>A , CM000684.1:g.50659221T>A | GRCh37 |
| NC_000022.9:g.49001348T>A | NCBI36 |
| NG_032160.1:g.29180A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3567A>T MANE Select | ENSP00000248846.5:p.Gly1189= | |
| ENST00000248846.9:c.3567A>T | ENSP00000248846.5:p.Gly1189= | |
| ENST00000439308.6:c.3567A>T | ENSP00000397387.2:p.Gly1189= | |
| ENST00000491449.5:n.1874A>T | ||
| ENST00000498611.5:n.3617+483A>T | ||
| NM_020461.3:c.3567A>T | NP_065194.2:p.Gly1189= | |
| XR_938347.1:n.4132A>T | ||
| XR_938348.1:n.3050-777A>T | ||
| XR_001755343.2:n.4136A>T | ||
| XR_001755344.2:n.4136A>T | ||
| XR_002958720.1:n.3054-777A>T | ||
| XR_938347.2:n.4136A>T | ||
| NM_020461.4:c.3567A>T MANE Select | NP_065194.3:p.Gly1189= |