Linked Data
ClinVar Variation Id:
1385549
ClinVar RCV Id:
RCV001888877
dbSNP Id:
rs556431806
ExAC:
22:50659638 C / G
gnomAD v2:
22-50659638-C-G
gnomAD v3:
22-50221209-C-G
gnomAD v4:
22-50221209-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221209C>G , CM000684.2:g.50221209C>G | GRCh38 |
| NC_000022.10:g.50659638C>G , CM000684.1:g.50659638C>G | GRCh37 |
| NC_000022.9:g.49001765C>G | NCBI36 |
| NG_032160.1:g.28763G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3150G>C MANE Select | ENSP00000248846.5:p.Trp1050Cys | |
| ENST00000248846.9:c.3150G>C | ENSP00000248846.5:p.Trp1050Cys | |
| ENST00000439308.6:c.3150G>C | ENSP00000397387.2:p.Trp1050Cys | |
| ENST00000491449.5:n.1457G>C | ||
| ENST00000498611.5:n.3617+66G>C | ||
| NM_020461.3:c.3150G>C | NP_065194.2:p.Trp1050Cys | |
| XR_938347.1:n.3715G>C | ||
| XR_938348.1:n.3049+819G>C | ||
| XR_001755343.2:n.3719G>C | ||
| XR_001755344.2:n.3719G>C | ||
| XR_002958720.1:n.3053+819G>C | ||
| XR_938347.2:n.3719G>C | ||
| NM_020461.4:c.3150G>C MANE Select | NP_065194.3:p.Trp1050Cys |