Linked Data
ClinVar Variation Id:
1917143
ClinVar RCV Id:
RCV002598040
dbSNP Id:
rs755122594
ExAC:
22:50659346 C / T
gnomAD v2:
22-50659346-C-T
gnomAD v3:
22-50220917-C-T
gnomAD v4:
22-50220917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220917C>T , CM000684.2:g.50220917C>T | GRCh38 |
| NC_000022.10:g.50659346C>T , CM000684.1:g.50659346C>T | GRCh37 |
| NC_000022.9:g.49001473C>T | NCBI36 |
| NG_032160.1:g.29055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3442G>A MANE Select | ENSP00000248846.5:p.Val1148Met | |
| ENST00000248846.9:c.3442G>A | ENSP00000248846.5:p.Val1148Met | |
| ENST00000439308.6:c.3442G>A | ENSP00000397387.2:p.Val1148Met | |
| ENST00000491449.5:n.1749G>A | ||
| ENST00000498611.5:n.3617+358G>A | ||
| NM_020461.3:c.3442G>A | NP_065194.2:p.Val1148Met | |
| XR_938347.1:n.4007G>A | ||
| XR_938348.1:n.3050-902G>A | ||
| XR_001755343.2:n.4011G>A | ||
| XR_001755344.2:n.4011G>A | ||
| XR_002958720.1:n.3054-902G>A | ||
| XR_938347.2:n.4011G>A | ||
| NM_020461.4:c.3442G>A MANE Select | NP_065194.3:p.Val1148Met |