Linked Data
ClinVar Variation Id:
1053255
ClinVar RCV Id:
RCV001361577
dbSNP Id:
rs1451891030
gnomAD v3:
22-50220986-C-T
gnomAD v4:
22-50220986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220986C>T , CM000684.2:g.50220986C>T | GRCh38 |
| NC_000022.10:g.50659415C>T , CM000684.1:g.50659415C>T | GRCh37 |
| NC_000022.9:g.49001542C>T | NCBI36 |
| NG_032160.1:g.28986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3373G>A MANE Select | ENSP00000248846.5:p.Ala1125Thr | |
| ENST00000248846.9:c.3373G>A | ENSP00000248846.5:p.Ala1125Thr | |
| ENST00000439308.6:c.3373G>A | ENSP00000397387.2:p.Ala1125Thr | |
| ENST00000491449.5:n.1680G>A | ||
| ENST00000498611.5:n.3617+289G>A | ||
| NM_020461.3:c.3373G>A | NP_065194.2:p.Ala1125Thr | |
| XR_938347.1:n.3938G>A | ||
| XR_938348.1:n.3050-971G>A | ||
| XR_001755343.2:n.3942G>A | ||
| XR_001755344.2:n.3942G>A | ||
| XR_002958720.1:n.3054-971G>A | ||
| XR_938347.2:n.3942G>A | ||
| NM_020461.4:c.3373G>A MANE Select | NP_065194.3:p.Ala1125Thr |