Linked Data
ClinVar Variation Id:
1447091
ClinVar RCV Id:
RCV001988090
dbSNP Id:
rs745417612
ExAC:
22:50659046 C / T
gnomAD v2:
22-50659046-C-T
gnomAD v3:
22-50220617-C-T
gnomAD v4:
22-50220617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220617C>T , CM000684.2:g.50220617C>T | GRCh38 |
| NC_000022.10:g.50659046C>T , CM000684.1:g.50659046C>T | GRCh37 |
| NC_000022.9:g.49001173C>T | NCBI36 |
| NG_032160.1:g.29355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3742G>A MANE Select | ENSP00000248846.5:p.Ala1248Thr | |
| ENST00000248846.9:c.3742G>A | ENSP00000248846.5:p.Ala1248Thr | |
| ENST00000439308.6:c.3742G>A | ENSP00000397387.2:p.Ala1248Thr | |
| ENST00000491449.5:n.2049G>A | ||
| ENST00000498611.5:n.3618-602G>A | ||
| NM_020461.3:c.3742G>A | NP_065194.2:p.Ala1248Thr | |
| XR_938347.1:n.4307G>A | ||
| XR_938348.1:n.3050-602G>A | ||
| XR_001755343.2:n.4311G>A | ||
| XR_001755344.2:n.4311G>A | ||
| XR_002958720.1:n.3054-602G>A | ||
| XR_938347.2:n.4311G>A | ||
| NM_020461.4:c.3742G>A MANE Select | NP_065194.3:p.Ala1248Thr |