Linked Data
ClinVar Variation Id:
1567804
ClinVar RCV Id:
RCV002215008
dbSNP Id:
rs538652140
ExAC:
22:50659649 G / T
gnomAD v3:
22-50221220-G-T
gnomAD v4:
22-50221220-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221220G>T , CM000684.2:g.50221220G>T | GRCh38 |
| NC_000022.10:g.50659649G>T , CM000684.1:g.50659649G>T | GRCh37 |
| NC_000022.9:g.49001776G>T | NCBI36 |
| NG_032160.1:g.28752C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3139C>A MANE Select | ENSP00000248846.5:p.Arg1047= | |
| ENST00000248846.9:c.3139C>A | ENSP00000248846.5:p.Arg1047= | |
| ENST00000439308.6:c.3139C>A | ENSP00000397387.2:p.Arg1047= | |
| ENST00000491449.5:n.1446C>A | ||
| ENST00000498611.5:n.3617+55C>A | ||
| NM_020461.3:c.3139C>A | NP_065194.2:p.Arg1047= | |
| XR_938347.1:n.3704C>A | ||
| XR_938348.1:n.3049+808C>A | ||
| XR_001755343.2:n.3708C>A | ||
| XR_001755344.2:n.3708C>A | ||
| XR_002958720.1:n.3053+808C>A | ||
| XR_938347.2:n.3708C>A | ||
| NM_020461.4:c.3139C>A MANE Select | NP_065194.3:p.Arg1047= |